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<div id="dbvar-main-box"><div class="study_information"><div class="dbvar-info"><h3 id="studies">estd216 (Kasak et al. 2015)</h3><dl class="suminfo"><dt>Organism:</dt><dd><a href="/Taxonomy/Browser/wwwtax.cgi?mode=Info&id=9606" title="Open Human in Taxonomy Browser">Human</a></dd><dt><span class="label">Study Type:</span></dt><dd>Case-Control</dd><dt><span class="label">Submitter:</span></dt><dd><a href="mailto:laura.kasak@ut.ee" title="Send email to Laura Kasak">Laura Kasak</a></dd><dt><span class="label">Description:</span></dt><dd>The study aimed to determine the contribution of copy number variants in the genetic etiology of normal and complicated pregnancies. The samples represented (i) maternal blood DNA drawn from healthy pregnant women during 1st or 2nd trimester and (ii) maternal and paternal blood DNA drawn at term pregnancy cases representing normal and complicated gestations (severe preeclampsia, PE; gestational diabetes, GD; small-for-gestational age newborn, SGA; large-for-gestational age newborn, LGA). We performed CNV calling based on genome-wide genotyping dataset (Illumina HumanOmniExpress-24-v1 BeadChip) by applying three algorithms, QuantiSNP, GADA (Genome Alteration Detection Algorithm) and CNstream in parallel. The acquired CNV calls were merged with HD-CNV (Hotspot Detector for Copy Number Variants) program and only the CNVs predicted by at least two programs, were considered in subsequent analysis. See Variant Summary counts for estd216 in <a title="dbVar Variant Summary" href="/dbvar/content/var_summary/%23estd216">dbVar Variant Summary</a>.</dd><dt><span class="label">Curatorial Comment:</span></dt><dd><span class="warning"><b>PLEASE NOTE:</b> All clinical variants in dbVar (including the variants in this study) have been re-accessioned in the study Clinical Structural Variants (nstd102). The new accessions are preferred and will be kept up to date with changes made in ClinVar. We recommend using the new nstd102 accessions whenever possible. A file mapping old accessions to new is available at https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/release_notes/nstd102_accession_mapping.txt.</span></dd><dt><span class="label">Publication(s):</span></dt><dd><a href="/sites/entrez?db=pubmed&cmd=search&term=25666259" title="Link to PubMed ID 25666259">Kasak et al. 2015</a></dd></dl></div></div></div>
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<a name="PAFAppLayout.AppController.Page.dbVar_StudyPageNew.dbVar_StudyPage_LinksP.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Links" id="PAFAppLayout.AppController.Page.dbVar_StudyPageNew.dbVar_StudyPage_LinksP.Shutter"></a>
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<a href="https://www.ncbi.nlm.nih.gov/dbvar?dbvartab=variant&term=estd216">Variants in this study</a>
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<a href="https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&id=9606">Open Human in Taxonomy Browser</a>
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<a class="seemore" href="#">See more...</a>
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<div class="tertiary">Source: NCBI</div>
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<div id="dbvar-main-box2"><div class="study_information"><h3>Detailed Information: <a class="download" href="download/?type=v" target="_blank" title="Preview and Download Variant Regions">Download 879 Variant Regions</a>, <a class="download" href="download/?type=i" target="_blank" title="Preview and Download Variant Calls">Download 879 Variant Calls</a>, <a class="download" href="download/" target="_blank" title="Preview and Download All Variants">Download Both</a>, <a title="Link to FTP resource" href="https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_study">FTP</a></h3><div data-jig="ncbitabs" id="studiesDetailsTabmenu"><ul><li><a id="variantTab1" href="#variantTab">Variant Summary</a></li><li><a id="samplesetsTab1" href="#samplesetsTab">Samplesets</a></li><li><a id="experdetailsTab1" href="#experdetailsTab">Experimental
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Details</a></li><li><a id="validationsTab1" href="#validationsTab">Validations</a></li></ul><div id="variantTab"><h2 class="ui-tabs-hide">Variant Summary</h2><h3>Assembly used for analysis:<br /><span class="indentplacement">Remapped: GRCh38.p12 (hg38)</span><style type="text/css">
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}</style></h3><div><h3 id="chromosomes"><label for="submittedvariantdropdown">Variant Summary for: </label><select name="PAFAppLayout.AppController.Page.dbVar_StudyPageNew.dbVar_StudyDisplay_P.submittedvariantdropdown" sid="1" id="submittedvariantdropdown"><option value="1" selected="selected">GRCh38.p12 (hg38)</option><option value="2">GRCh37 (hg19)</option></select></h3><div id="submittedvarianttable1" class=""><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table data-jig="ncbigrid" data-jigconfig="isPageable: true,pageSize:10, isSortable: true, columnTypes: ['str','str', 'numComma', 'numComma', 'str', 'str'], sortFunctions: [strPnumSort,strnumSort,null,null,null,strPnumSort]"><thead><tr><th>Sequence ID</th><th>Chr</th><th>Number of Variant Regions</th><th>Number of Variant Calls</th><th>Placement type</th><th>Link to graphical display</th></tr></thead><tbody><tr><td>NC_000001.11</td><td>Chr1</td><td>61</td><td>61</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000001.11&from=1422601&to=1531521&studies=estd216" title="Link to Genome Browser">NC_000001.11</a></td></tr><tr><td>NC_000002.12</td><td>Chr2</td><td>78</td><td>78</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000002.12&from=1&to=275621&studies=estd216" title="Link to Genome Browser">NC_000002.12</a></td></tr><tr><td>NC_000003.12</td><td>Chr3</td><td>86</td><td>86</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000003.12&from=1&to=116880&studies=estd216" title="Link to Genome Browser">NC_000003.12</a></td></tr><tr><td>NC_000004.12</td><td>Chr4</td><td>49</td><td>49</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000004.12&from=36976&to=175768&studies=estd216" title="Link to Genome Browser">NC_000004.12</a></td></tr><tr><td>NC_000005.10</td><td>Chr5</td><td>56</td><td>56</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000005.10&from=757331&to=882131&studies=estd216" title="Link to Genome Browser">NC_000005.10</a></td></tr><tr><td>NC_000006.12</td><td>Chr6</td><td>36</td><td>36</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000006.12&from=14836537&to=14848578&studies=estd216" title="Link to Genome Browser">NC_000006.12</a></td></tr><tr><td>NC_000007.14</td><td>Chr7</td><td>52</td><td>52</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000007.14&from=35656&to=72773&studies=estd216" title="Link to Genome Browser">NC_000007.14</a></td></tr><tr><td>NC_000008.11</td><td>Chr8</td><td>52</td><td>52</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000008.11&from=2186671&to=2218931&studies=estd216" title="Link to Genome Browser">NC_000008.11</a></td></tr><tr><td>NC_000009.12</td><td>Chr9</td><td>28</td><td>28</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000009.12&from=1&to=387868&studies=estd216" title="Link to Genome Browser">NC_000009.12</a></td></tr><tr><td>NC_000010.11</td><td>Chr10</td><td>46</td><td>46</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000010.11&from=13012676&to=13020321&studies=estd216" title="Link to Genome Browser">NC_000010.11</a></td></tr><tr><td>NC_000011.10</td><td>Chr11</td><td>41</td><td>41</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000011.10&from=198433&to=462266&studies=estd216" title="Link to Genome Browser">NC_000011.10</a></td></tr><tr><td>NC_000012.12</td><td>Chr12</td><td>40</td><td>40</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000012.12&from=2132826&to=2147402&studies=estd216" title="Link to Genome Browser">NC_000012.12</a></td></tr><tr><td>NC_000013.11</td><td>Chr13</td><td>36</td><td>36</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000013.11&from=19875987&to=19955763&studies=estd216" title="Link to Genome Browser">NC_000013.11</a></td></tr><tr><td>NC_000014.9</td><td>Chr14</td><td>32</td><td>32</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000014.9&from=17747953&to=20961525&studies=estd216" title="Link to Genome Browser">NC_000014.9</a></td></tr><tr><td>NC_000015.10</td><td>Chr15</td><td>32</td><td>32</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000015.10&from=19457260&to=23258569&studies=estd216" title="Link to Genome Browser">NC_000015.10</a></td></tr><tr><td>NC_000016.10</td><td>Chr16</td><td>18</td><td>18</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000016.10&from=10048700&to=10078089&studies=estd216" title="Link to Genome Browser">NC_000016.10</a></td></tr><tr><td>NC_000017.11</td><td>Chr17</td><td>37</td><td>37</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000017.11&from=1152220&to=1398129&studies=estd216" title="Link to Genome Browser">NC_000017.11</a></td></tr><tr><td>NC_000018.10</td><td>Chr18</td><td>25</td><td>25</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000018.10&from=1667902&to=1899323&studies=estd216" title="Link to Genome Browser">NC_000018.10</a></td></tr><tr><td>NC_000019.10</td><td>Chr19</td><td>46</td><td>46</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000019.10&from=1776321&to=1798557&studies=estd216" title="Link to Genome Browser">NC_000019.10</a></td></tr><tr><td>NC_000020.11</td><td>Chr20</td><td>8</td><td>8</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000020.11&from=7974966&to=7983578&studies=estd216" title="Link to Genome Browser">NC_000020.11</a></td></tr><tr><td>NC_000021.9</td><td>Chr21</td><td>5</td><td>5</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000021.9&from=10556062&to=10727878&studies=estd216" title="Link to Genome Browser">NC_000021.9</a></td></tr><tr><td>NC_000022.11</td><td>Chr22</td><td>15</td><td>15</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NC_000022.11&from=18775381&to=19102333&studies=estd216" title="Link to Genome Browser">NC_000022.11</a></td></tr><tr><td>NT_187516.1</td><td>Chr1|NT_187516.1</td><td>3</td><td>3</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187516.1&from=162512&to=184133&studies=estd216" title="Link to Genome Browser">NT_187516.1</a></td></tr><tr><td>NW_012132914.1</td><td>Chr1|NW_012132914.1</td><td>1</td><td>1</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NW_012132914.1&from=1&to=52432&studies=estd216" title="Link to Genome Browser">NW_012132914.1</a></td></tr><tr><td>NT_187523.1</td><td>Chr2|NT_187523.1</td><td>8</td><td>8</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187523.1&from=1&to=226018&studies=estd216" title="Link to Genome Browser">NT_187523.1</a></td></tr><tr><td>NT_187647.1</td><td>Chr2|NT_187647.1</td><td>8</td><td>8</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187647.1&from=1&to=225478&studies=estd216" title="Link to Genome Browser">NT_187647.1</a></td></tr><tr><td>NW_019805488.1</td><td>Chr3|NW_019805488.1</td><td>1</td><td>1</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NW_019805488.1&from=52675&to=81195&studies=estd216" title="Link to Genome Browser">NW_019805488.1</a></td></tr><tr><td>NT_187546.1</td><td>Chr5|NT_187546.1</td><td>1</td><td>1</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187546.1&from=96906&to=115915&studies=estd216" title="Link to Genome Browser">NT_187546.1</a></td></tr><tr><td>NT_187651.1</td><td>Chr5|NT_187651.1</td><td>5</td><td>5</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187651.1&from=557367&to=560903&studies=estd216" title="Link to Genome Browser">NT_187651.1</a></td></tr><tr><td>NT_187652.1</td><td>Chr5|NT_187652.1</td><td>1</td><td>1</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187652.1&from=93834&to=112834&studies=estd216" title="Link to Genome Browser">NT_187652.1</a></td></tr><tr><td>NW_003315917.2</td><td>Chr5|NW_003315917.2</td><td>6</td><td>6</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NW_003315917.2&from=209625&to=350670&studies=estd216" title="Link to Genome Browser">NW_003315917.2</a></td></tr><tr><td>NT_187555.1</td><td>Chr6|NT_187555.1</td><td>2</td><td>2</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187555.1&from=31950&to=181654&studies=estd216" title="Link to Genome Browser">NT_187555.1</a></td></tr><tr><td>NT_187558.1</td><td>Chr7|NT_187558.1</td><td>1</td><td>1</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187558.1&from=1&to=28872&studies=estd216" title="Link to Genome Browser">NT_187558.1</a></td></tr><tr><td>NT_187561.1</td><td>Chr7|NT_187561.1</td><td>1</td><td>1</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187561.1&from=1&to=19542&studies=estd216" title="Link to Genome Browser">NT_187561.1</a></td></tr><tr><td>NT_187562.1</td><td>Chr7|NT_187562.1</td><td>8</td><td>8</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187562.1&from=26806&to=65063&studies=estd216" title="Link to Genome Browser">NT_187562.1</a></td></tr><tr><td>NT_187653.1</td><td>Chr7|NT_187653.1</td><td>1</td><td>1</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187653.1&from=27977&to=65094&studies=estd216" title="Link to Genome Browser">NT_187653.1</a></td></tr><tr><td>NW_019805493.1</td><td>Chr7|NW_019805493.1</td><td>1</td><td>1</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NW_019805493.1&from=17730&to=221354&studies=estd216" title="Link to Genome Browser">NW_019805493.1</a></td></tr><tr><td>NT_187576.1</td><td>Chr8|NT_187576.1</td><td>1</td><td>1</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187576.1&from=369342&to=401882&studies=estd216" title="Link to Genome Browser">NT_187576.1</a></td></tr><tr><td>NW_018654717.1</td><td>Chr8|NW_018654717.1</td><td>2</td><td>2</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NW_018654717.1&from=4619816&to=4628776&studies=estd216" title="Link to Genome Browser">NW_018654717.1</a></td></tr><tr><td>NT_187579.1</td><td>Chr10|NT_187579.1</td><td>1</td><td>1</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187579.1&from=36061&to=229974&studies=estd216" title="Link to Genome Browser">NT_187579.1</a></td></tr><tr><td>NT_187587.1</td><td>Chr12|NT_187587.1</td><td>7</td><td>7</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187587.1&from=1&to=229595&studies=estd216" title="Link to Genome Browser">NT_187587.1</a></td></tr><tr><td>NW_018654718.1</td><td>Chr12|NW_018654718.1</td><td>8</td><td>8</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NW_018654718.1&from=474970&to=489546&studies=estd216" title="Link to Genome Browser">NW_018654718.1</a></td></tr><tr><td>NT_187600.1</td><td>Chr14|NT_187600.1</td><td>3</td><td>3</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187600.1&from=1&to=1821116&studies=estd216" title="Link to Genome Browser">NT_187600.1</a></td></tr><tr><td>NW_018654722.1</td><td>Chr14|NW_018654722.1</td><td>4</td><td>4</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NW_018654722.1&from=252587&to=337551&studies=estd216" title="Link to Genome Browser">NW_018654722.1</a></td></tr><tr><td>NT_187607.1</td><td>Chr16|NT_187607.1</td><td>1</td><td>1</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187607.1&from=206314&to=742747&studies=estd216" title="Link to Genome Browser">NT_187607.1</a></td></tr><tr><td>NT_187661.1</td><td>Chr17|NT_187661.1</td><td>1</td><td>1</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187661.1&from=72619&to=113275&studies=estd216" title="Link to Genome Browser">NT_187661.1</a></td></tr><tr><td>NT_187663.1</td><td>Chr17|NT_187663.1</td><td>13</td><td>13</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187663.1&from=623524&to=1155445&studies=estd216" title="Link to Genome Browser">NT_187663.1</a></td></tr><tr><td>NT_187614.1</td><td>Chr17|NT_187614.1</td><td>1</td><td>1</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NT_187614.1&from=353440&to=394085&studies=estd216" title="Link to Genome Browser">NT_187614.1</a></td></tr><tr><td>NW_019805503.1</td><td>Chr18|NW_019805503.1</td><td>2</td><td>2</td><td>Remapped</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.39&chr=NW_019805503.1&from=1&to=179725&studies=estd216" title="Link to Genome Browser">NW_019805503.1</a></td></tr></tbody></table></div></div></div><div id="submittedvarianttable2" class="hide"><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table data-jig="ncbigrid" data-jigconfig="isPageable: true,pageSize:10, isSortable: true, columnTypes: ['str','str', 'numComma', 'numComma', 'str', 'str'], sortFunctions: [strPnumSort,strnumSort,null,null,null,strPnumSort]"><thead><tr><th>Sequence ID</th><th>Chr</th><th>Number of Variant Regions</th><th>Number of Variant Calls</th><th>Placement type</th><th>Link to graphical display</th></tr></thead><tbody><tr><td>NC_000001.10</td><td>Chr1</td><td>61</td><td>61</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000001.10&from=1357981&to=1466901&studies=estd216" title="Link to Genome Browser">NC_000001.10</a></td></tr><tr><td>NC_000002.11</td><td>Chr2</td><td>78</td><td>78</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000002.11&from=1&to=275621&studies=estd216" title="Link to Genome Browser">NC_000002.11</a></td></tr><tr><td>NC_000003.11</td><td>Chr3</td><td>86</td><td>86</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000003.11&from=29138&to=158566&studies=estd216" title="Link to Genome Browser">NC_000003.11</a></td></tr><tr><td>NC_000004.11</td><td>Chr4</td><td>49</td><td>49</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000004.11&from=39924&to=166493&studies=estd216" title="Link to Genome Browser">NC_000004.11</a></td></tr><tr><td>NC_000005.9</td><td>Chr5</td><td>56</td><td>56</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000005.9&from=757446&to=882246&studies=estd216" title="Link to Genome Browser">NC_000005.9</a></td></tr><tr><td>NC_000006.11</td><td>Chr6</td><td>36</td><td>36</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000006.11&from=14836768&to=14848809&studies=estd216" title="Link to Genome Browser">NC_000006.11</a></td></tr><tr><td>NC_000007.13</td><td>Chr7</td><td>52</td><td>52</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000007.13&from=35656&to=72773&studies=estd216" title="Link to Genome Browser">NC_000007.13</a></td></tr><tr><td>NC_000008.10</td><td>Chr8</td><td>52</td><td>52</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000008.10&from=2134132&to=2166672&studies=estd216" title="Link to Genome Browser">NC_000008.10</a></td></tr><tr><td>NC_000009.11</td><td>Chr9</td><td>28</td><td>28</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000009.11&from=1&to=387868&studies=estd216" title="Link to Genome Browser">NC_000009.11</a></td></tr><tr><td>NC_000010.10</td><td>Chr10</td><td>46</td><td>46</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000010.10&from=13054676&to=13062321&studies=estd216" title="Link to Genome Browser">NC_000010.10</a></td></tr><tr><td>NC_000011.9</td><td>Chr11</td><td>41</td><td>41</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000011.9&from=198433&to=462266&studies=estd216" title="Link to Genome Browser">NC_000011.9</a></td></tr><tr><td>NC_000012.11</td><td>Chr12</td><td>40</td><td>40</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000012.11&from=2241992&to=2256568&studies=estd216" title="Link to Genome Browser">NC_000012.11</a></td></tr><tr><td>NC_000013.10</td><td>Chr13</td><td>36</td><td>36</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000013.10&from=20450127&to=20529903&studies=estd216" title="Link to Genome Browser">NC_000013.10</a></td></tr><tr><td>NC_000014.8</td><td>Chr14</td><td>32</td><td>32</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000014.8&from=18678589&to=21275525&studies=estd216" title="Link to Genome Browser">NC_000014.8</a></td></tr><tr><td>NC_000015.9</td><td>Chr15</td><td>32</td><td>32</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000015.9&from=19593095&to=23672075&studies=estd216" title="Link to Genome Browser">NC_000015.9</a></td></tr><tr><td>NC_000016.9</td><td>Chr16</td><td>18</td><td>18</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000016.9&from=10142557&to=10171946&studies=estd216" title="Link to Genome Browser">NC_000016.9</a></td></tr><tr><td>NC_000017.10</td><td>Chr17</td><td>37</td><td>37</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000017.10&from=1055514&to=1301423&studies=estd216" title="Link to Genome Browser">NC_000017.10</a></td></tr><tr><td>NC_000018.9</td><td>Chr18</td><td>25</td><td>25</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000018.9&from=1667903&to=1899324&studies=estd216" title="Link to Genome Browser">NC_000018.9</a></td></tr><tr><td>NC_000019.9</td><td>Chr19</td><td>46</td><td>46</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000019.9&from=1776320&to=1798556&studies=estd216" title="Link to Genome Browser">NC_000019.9</a></td></tr><tr><td>NC_000020.10</td><td>Chr20</td><td>8</td><td>8</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000020.10&from=7955613&to=7964225&studies=estd216" title="Link to Genome Browser">NC_000020.10</a></td></tr><tr><td>NC_000021.8</td><td>Chr21</td><td>5</td><td>5</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000021.8&from=10784579&to=10956395&studies=estd216" title="Link to Genome Browser">NC_000021.8</a></td></tr><tr><td>NC_000022.10</td><td>Chr22</td><td>15</td><td>15</td><td>Submitted</td><td><a href="/dbvar/browse/org/?taxid=9606&assm=GCF_000001405.25&chr=NC_000022.10&from=18762894&to=19089846&studies=estd216" title="Link to Genome Browser">NC_000022.10</a></td></tr></tbody></table></div></div></div><h3 id="remappedchromosomes"><label for="remappedvariantdropdown">Remapping summary: </label><select name="PAFAppLayout.AppController.Page.dbVar_StudyPageNew.dbVar_StudyDisplay_P.remappedvariantdropdown" sid="1" id="remappedvariantdropdown"><option value="1" selected="selected">GRCh37->GRCh38.p12</option></select></h3><div id="remappedvarianttable1" class=""><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table data-jig="ncbigrid" id="remappedchromosomestable" data-jigconfig="isPageable: true,pageSize:10, isSortable: true, sortRowIndex:1,columnTypes: ['str','str','num','num','num','num','num','num','num','num','num','num','num','num'], sortFunctions: [strPnumSort,strnumSort,null,null,null,null,null,null,null,null,null,null,null,null]"><thead><tr><th colspan="3"></th><th class="aa" colspan="5">Variant Region remap status</th><th></th><th class="aa" colspan="5">Variant Call remap status</th></tr><tr><th>Sequence ID</th><th>Chr</th><th>Variant Regions on source</th><th>Perfect</th><th>Good</th><th>Pass</th><th>Fail</th><th>Mult</th><th>Variant Calls on source</th><th>Perfect</th><th>Good</th><th>Pass</th><th>Fail</th><th>Mult</th></tr></thead><tbody><tr><td>NC_000001.10</td><td>Chr1</td><td>61</td><td>48</td><td>9</td><td>0</td><td>0</td><td>4</td><td>61</td><td>48</td><td>9</td><td>0</td><td>0</td><td>4</td></tr><tr><td>NC_000002.11</td><td>Chr2</td><td>78</td><td>54</td><td>13</td><td>3</td><td>0</td><td>8</td><td>78</td><td>54</td><td>13</td><td>3</td><td>0</td><td>8</td></tr><tr><td>NC_000003.11</td><td>Chr3</td><td>86</td><td>81</td><td>4</td><td>0</td><td>0</td><td>1</td><td>86</td><td>81</td><td>4</td><td>0</td><td>0</td><td>1</td></tr><tr><td>NC_000004.11</td><td>Chr4</td><td>49</td><td>48</td><td>0</td><td>1</td><td>0</td><td>0</td><td>49</td><td>48</td><td>0</td><td>1</td><td>0</td><td>0</td></tr><tr><td>NC_000005.9</td><td>Chr5</td><td>56</td><td>48</td><td>1</td><td>0</td><td>0</td><td>7</td><td>56</td><td>48</td><td>1</td><td>0</td><td>0</td><td>7</td></tr><tr><td>NC_000006.11</td><td>Chr6</td><td>36</td><td>34</td><td>0</td><td>0</td><td>0</td><td>2</td><td>36</td><td>34</td><td>0</td><td>0</td><td>0</td><td>2</td></tr><tr><td>NC_000007.13</td><td>Chr7</td><td>52</td><td>32</td><td>9</td><td>0</td><td>0</td><td>11</td><td>52</td><td>32</td><td>9</td><td>0</td><td>0</td><td>11</td></tr><tr><td>NC_000008.10</td><td>Chr8</td><td>52</td><td>49</td><td>0</td><td>0</td><td>0</td><td>3</td><td>52</td><td>49</td><td>0</td><td>0</td><td>0</td><td>3</td></tr><tr><td>NC_000009.11</td><td>Chr9</td><td>28</td><td>28</td><td>0</td><td>0</td><td>0</td><td>0</td><td>28</td><td>28</td><td>0</td><td>0</td><td>0</td><td>0</td></tr><tr><td>NC_000010.10</td><td>Chr10</td><td>46</td><td>40</td><td>0</td><td>5</td><td>0</td><td>1</td><td>46</td><td>40</td><td>0</td><td>5</td><td>0</td><td>1</td></tr><tr><td>NC_000011.9</td><td>Chr11</td><td>41</td><td>40</td><td>0</td><td>1</td><td>0</td><td>0</td><td>41</td><td>40</td><td>0</td><td>1</td><td>0</td><td>0</td></tr><tr><td>NC_000012.11</td><td>Chr12</td><td>40</td><td>25</td><td>0</td><td>0</td><td>0</td><td>15</td><td>40</td><td>25</td><td>0</td><td>0</td><td>0</td><td>15</td></tr><tr><td>NC_000013.10</td><td>Chr13</td><td>36</td><td>35</td><td>0</td><td>1</td><td>0</td><td>0</td><td>36</td><td>35</td><td>0</td><td>1</td><td>0</td><td>0</td></tr><tr><td>NC_000014.8</td><td>Chr14</td><td>32</td><td>21</td><td>2</td><td>2</td><td>0</td><td>7</td><td>32</td><td>21</td><td>2</td><td>2</td><td>0</td><td>7</td></tr><tr><td>NC_000015.9</td><td>Chr15</td><td>32</td><td>29</td><td>2</td><td>1</td><td>0</td><td>0</td><td>32</td><td>29</td><td>2</td><td>1</td><td>0</td><td>0</td></tr><tr><td>NC_000016.9</td><td>Chr16</td><td>18</td><td>14</td><td>0</td><td>3</td><td>0</td><td>1</td><td>18</td><td>14</td><td>0</td><td>3</td><td>0</td><td>1</td></tr><tr><td>NC_000017.10</td><td>Chr17</td><td>37</td><td>23</td><td>0</td><td>0</td><td>0</td><td>14</td><td>37</td><td>23</td><td>0</td><td>0</td><td>0</td><td>14</td></tr><tr><td>NC_000018.9</td><td>Chr18</td><td>25</td><td>23</td><td>0</td><td>0</td><td>0</td><td>2</td><td>25</td><td>23</td><td>0</td><td>0</td><td>0</td><td>2</td></tr><tr><td>NC_000019.9</td><td>Chr19</td><td>46</td><td>46</td><td>0</td><td>0</td><td>0</td><td>0</td><td>46</td><td>46</td><td>0</td><td>0</td><td>0</td><td>0</td></tr><tr><td>NC_000020.10</td><td>Chr20</td><td>8</td><td>7</td><td>1</td><td>0</td><td>0</td><td>0</td><td>8</td><td>7</td><td>1</td><td>0</td><td>0</td><td>0</td></tr><tr><td>NC_000021.8</td><td>Chr21</td><td>5</td><td>3</td><td>2</td><td>0</td><td>0</td><td>0</td><td>5</td><td>3</td><td>2</td><td>0</td><td>0</td><td>0</td></tr><tr><td>NC_000022.10</td><td>Chr22</td><td>15</td><td>14</td><td>1</td><td>0</td><td>0</td><td>0</td><td>15</td><td>14</td><td>1</td><td>0</td><td>0</td><td>0</td></tr></tbody></table></div></div></div></div></div><div id="samplesetsTab"><h2 class="ui-tabs-hide">Samplesets</h2><h3 id="samplesets">Number of Samplesets: 7</h3><dl class="Samplesetsum"><dt>Sampleset ID:</dt><dd>1</dd><dt>Name:</dt><dd>I_trimester</dd><dt>Sampleset Type:</dt><dd>Control</dd><dt>Description:</dt><dd>Maternal blood DNA samples obtained from females who underwent elective (surgical) termination of pregnancy during first trimester</dd><dt>Size:</dt><dd>8</dd><dt>Organisms:</dt><dd><a title="Link to Taxonomy" href="/Taxonomy/Browser/wwwtax.cgi?mode=Info&id=9606">Homo sapiens</a></dd><dt>Sampleset Phenotype(s):</dt><dd><a title="Link to MeSH" href="/medgen/452275">Normal pregnancy </a></dd><dt>Sex:</dt><dd>Female</dd><li><a href="https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_study/csv/samples_for_estd216_1.csv.gz" title="Download Samples as CSV file">Download Samples as CSV file</a></li><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table data-jig="ncbigrid" id="samplesetshere" data-jigconfig="isPageable: true, pageSize:10, isSortable: true, columnTypes: ['str', 'str','str', 'str','str','str','str'], sortFunctions: [strnumSort2,strnumSort2,strnumSort2,strnumSort,null,null,null], sortColumn:1, sortColumnDir:1"><caption>Samples for sampleset 1</caption><thead><tr><th>Sample ID</th><th>Subject ID </th><th>Sex</th><th>Ethnicity</th><th>Subject Phenotype</th></tr></thead><tbody><tr><td>Sample 4</td><td>Sample 4</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 5</td><td>Sample 5</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 6</td><td>Sample 6</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 3</td><td>Sample 3</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 2</td><td>Sample 2</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 7</td><td>Sample 7</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 8</td><td>Sample 8</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 1</td><td>Sample 1</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr></tbody></table></div></div></dl><dl class="Samplesetsum"><dt>Sampleset ID:</dt><dd>2</dd><dt>Name:</dt><dd>II_trimester</dd><dt>Sampleset Type:</dt><dd>Control</dd><dt>Description:</dt><dd>Maternal blood DNA samples obtained from females who underwent therapeutic medically induced abortion during second trimester due to maternal medical risks of pregnancy</dd><dt>Size:</dt><dd>8</dd><dt>Organisms:</dt><dd><a title="Link to Taxonomy" href="/Taxonomy/Browser/wwwtax.cgi?mode=Info&id=9606">Homo sapiens</a></dd><dt>Sampleset Phenotype(s):</dt><dd><a title="Link to MeSH" href="/medgen/452275">Normal pregnancy </a></dd><dt>Sex:</dt><dd>Female</dd><li><a href="https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_study/csv/samples_for_estd216_2.csv.gz" title="Download Samples as CSV file">Download Samples as CSV file</a></li><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table data-jig="ncbigrid" id="samplesetshere" data-jigconfig="isPageable: true, pageSize:10, isSortable: true, columnTypes: ['str', 'str','str', 'str','str','str','str'], sortFunctions: [strnumSort2,strnumSort2,strnumSort2,strnumSort,null,null,null], sortColumn:1, sortColumnDir:1"><caption>Samples for sampleset 2</caption><thead><tr><th>Sample ID</th><th>Subject ID </th><th>Sex</th><th>Ethnicity</th><th>Subject Phenotype</th></tr></thead><tbody><tr><td>Sample 15</td><td>Sample 15</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 13</td><td>Sample 13</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 12</td><td>Sample 12</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 16</td><td>Sample 16</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 9</td><td>Sample 9</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 11</td><td>Sample 11</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 14</td><td>Sample 14</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 10</td><td>Sample 10</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr></tbody></table></div></div></dl><dl class="Samplesetsum"><dt>Sampleset ID:</dt><dd>3</dd><dt>Name:</dt><dd>normal term</dd><dt>Sampleset Type:</dt><dd>Control</dd><dt>Description:</dt><dd>Maternal and paternal blood DNA samples drawn postpartum from the normal term pregnancy families</dd><dt>Size:</dt><dd>16</dd><dt>Organisms:</dt><dd><a title="Link to Taxonomy" href="/Taxonomy/Browser/wwwtax.cgi?mode=Info&id=9606">Homo sapiens</a></dd><dt>Sampleset Phenotype(s):</dt><dd><a title="Link to MeSH" href="/medgen/452275">Normal pregnancy </a></dd><li><a href="https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_study/csv/samples_for_estd216_3.csv.gz" title="Download Samples as CSV file">Download Samples as CSV file</a></li><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table data-jig="ncbigrid" id="samplesetshere" data-jigconfig="isPageable: true, pageSize:10, isSortable: true, columnTypes: ['str', 'str','str', 'str','str','str','str'], sortFunctions: [strnumSort2,strnumSort2,strnumSort2,strnumSort,null,null,null], sortColumn:1, sortColumnDir:1"><caption>Samples for sampleset 3</caption><thead><tr><th>Sample ID</th><th>Subject ID </th><th>Sex</th><th>Ethnicity</th><th>Subject Phenotype</th></tr></thead><tbody><tr><td>Sample 30</td><td>Sample 30</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 18</td><td>Sample 18</td><td>Male</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 29</td><td>Sample 29</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 26</td><td>Sample 26</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 24</td><td>Sample 24</td><td>Male</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 21</td><td>Sample 21</td><td>Male</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 27</td><td>Sample 27</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 19</td><td>Sample 19</td><td>Male</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 22</td><td>Sample 22</td><td>Male</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 28</td><td>Sample 28</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 23</td><td>Sample 23</td><td>Male</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 17</td><td>Sample 17</td><td>Male</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 20</td><td>Sample 20</td><td>Male</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 25</td><td>Sample 25</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 31</td><td>Sample 31</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr><tr><td>Sample 32</td><td>Sample 32</td><td>Female</td><td>Estonia</td><td><a href="/medgen/452275">Normal pregnancy </a><br /></td></tr></tbody></table></div></div></dl><dl class="Samplesetsum"><dt>Sampleset ID:</dt><dd>4</dd><dt>Name:</dt><dd>SGA</dd><dt>Sampleset Type:</dt><dd>Case</dd><dt>Description:</dt><dd>Maternal and paternal blood DNA samples drawn postpartum from the term pregnancy cases with small-for-gestational age (SGA) newborns</dd><dt>Size:</dt><dd>15</dd><dt>Organisms:</dt><dd><a title="Link to Taxonomy" href="/Taxonomy/Browser/wwwtax.cgi?mode=Info&id=9606">Homo sapiens</a></dd><dt>Sampleset Phenotype(s):</dt><dd><a title="Link to MeSH" href="/medgen/44199">Low birth weight </a></dd><li><a href="https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_study/csv/samples_for_estd216_4.csv.gz" title="Download Samples as CSV file">Download Samples as CSV file</a></li><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table data-jig="ncbigrid" id="samplesetshere" data-jigconfig="isPageable: true, pageSize:10, isSortable: true, columnTypes: ['str', 'str','str', 'str','str','str','str'], sortFunctions: [strnumSort2,strnumSort2,strnumSort2,strnumSort,null,null,null], sortColumn:1, sortColumnDir:1"><caption>Samples for sampleset 4</caption><thead><tr><th>Sample ID</th><th>Subject ID </th><th>Sex</th><th>Ethnicity</th><th>Subject Phenotype</th></tr></thead><tbody><tr><td>Sample 33</td><td>Sample 33</td><td>Male</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr><tr><td>Sample 38</td><td>Sample 38</td><td>Male</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr><tr><td>Sample 44</td><td>Sample 44</td><td>Female</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr><tr><td>Sample 41</td><td>Sample 41</td><td>Female</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr><tr><td>Sample 47</td><td>Sample 47</td><td>Female</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr><tr><td>Sample 36</td><td>Sample 36</td><td>Male</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr><tr><td>Sample 39</td><td>Sample 39</td><td>Male</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr><tr><td>Sample 46</td><td>Sample 46</td><td>Female</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr><tr><td>Sample 42</td><td>Sample 42</td><td>Female</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr><tr><td>Sample 43</td><td>Sample 43</td><td>Female</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr><tr><td>Sample 35</td><td>Sample 35</td><td>Male</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr><tr><td>Sample 40</td><td>Sample 40</td><td>Female</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr><tr><td>Sample 34</td><td>Sample 34</td><td>Male</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr><tr><td>Sample 45</td><td>Sample 45</td><td>Female</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr><tr><td>Sample 37</td><td>Sample 37</td><td>Male</td><td>Estonia</td><td><a href="/medgen/44199">Low birth weight </a><br /></td></tr></tbody></table></div></div></dl><dl class="Samplesetsum"><dt>Sampleset ID:</dt><dd>5</dd><dt>Name:</dt><dd>LGA</dd><dt>Sampleset Type:</dt><dd>Case</dd><dt>Description:</dt><dd>Maternal and paternal blood DNA samples drawn postpartum from the term pregnancy cases with large-for-gestational age (LGA) newborns</dd><dt>Size:</dt><dd>15</dd><dt>Organisms:</dt><dd><a title="Link to Taxonomy" href="/Taxonomy/Browser/wwwtax.cgi?mode=Info&id=9606">Homo sapiens</a></dd><dt>Sampleset Phenotype(s):</dt><dd><a title="Link to MeSH" href="/medgen/56389">Exceptionally large at birth </a></dd><li><a href="https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_study/csv/samples_for_estd216_5.csv.gz" title="Download Samples as CSV file">Download Samples as CSV file</a></li><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table data-jig="ncbigrid" id="samplesetshere" data-jigconfig="isPageable: true, pageSize:10, isSortable: true, columnTypes: ['str', 'str','str', 'str','str','str','str'], sortFunctions: [strnumSort2,strnumSort2,strnumSort2,strnumSort,null,null,null], sortColumn:1, sortColumnDir:1"><caption>Samples for sampleset 5</caption><thead><tr><th>Sample ID</th><th>Subject ID </th><th>Sex</th><th>Ethnicity</th><th>Subject Phenotype</th></tr></thead><tbody><tr><td>Sample 58</td><td>Sample 58</td><td>Female</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr><tr><td>Sample 55</td><td>Sample 55</td><td>Female</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr><tr><td>Sample 50</td><td>Sample 50</td><td>Male</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr><tr><td>Sample 61</td><td>Sample 61</td><td>Female</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr><tr><td>Sample 60</td><td>Sample 60</td><td>Female</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr><tr><td>Sample 57</td><td>Sample 57</td><td>Female</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr><tr><td>Sample 49</td><td>Sample 49</td><td>Male</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr><tr><td>Sample 62</td><td>Sample 62</td><td>Female</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr><tr><td>Sample 52</td><td>Sample 52</td><td>Male</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr><tr><td>Sample 53</td><td>Sample 53</td><td>Male</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr><tr><td>Sample 54</td><td>Sample 54</td><td>Male</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr><tr><td>Sample 59</td><td>Sample 59</td><td>Female</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr><tr><td>Sample 51</td><td>Sample 51</td><td>Male</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr><tr><td>Sample 56</td><td>Sample 56</td><td>Female</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr><tr><td>Sample 48</td><td>Sample 48</td><td>Male</td><td>Estonia</td><td><a href="/medgen/56389">Exceptionally large at birth </a><br /></td></tr></tbody></table></div></div></dl><dl class="Samplesetsum"><dt>Sampleset ID:</dt><dd>6</dd><dt>Name:</dt><dd>Preeclampsia</dd><dt>Sampleset Type:</dt><dd>Case</dd><dt>Description:</dt><dd>Maternal and paternal blood DNA samples drawn postpartum from term pregnancies complicated with maternal severe late preeclampsia</dd><dt>Size:</dt><dd>16</dd><dt>Organisms:</dt><dd><a title="Link to Taxonomy" href="/Taxonomy/Browser/wwwtax.cgi?mode=Info&id=9606">Homo sapiens</a></dd><dt>Sampleset Phenotype(s):</dt><dd><a title="Link to MeSH" href="/medgen/451904">Preeclampsia </a></dd><li><a href="https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_study/csv/samples_for_estd216_6.csv.gz" title="Download Samples as CSV file">Download Samples as CSV file</a></li><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table data-jig="ncbigrid" id="samplesetshere" data-jigconfig="isPageable: true, pageSize:10, isSortable: true, columnTypes: ['str', 'str','str', 'str','str','str','str'], sortFunctions: [strnumSort2,strnumSort2,strnumSort2,strnumSort,null,null,null], sortColumn:1, sortColumnDir:1"><caption>Samples for sampleset 6</caption><thead><tr><th>Sample ID</th><th>Subject ID </th><th>Sex</th><th>Ethnicity</th><th>Subject Phenotype</th></tr></thead><tbody><tr><td>Sample 72</td><td>Sample 72</td><td>Female</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 67</td><td>Sample 67</td><td>Male</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 76</td><td>Sample 76</td><td>Female</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 69</td><td>Sample 69</td><td>Male</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 74</td><td>Sample 74</td><td>Female</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 68</td><td>Sample 68</td><td>Male</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 66</td><td>Sample 66</td><td>Male</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 63</td><td>Sample 63</td><td>Male</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 71</td><td>Sample 71</td><td>Female</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 75</td><td>Sample 75</td><td>Female</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 64</td><td>Sample 64</td><td>Male</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 70</td><td>Sample 70</td><td>Male</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 65</td><td>Sample 65</td><td>Male</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 77</td><td>Sample 77</td><td>Female</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 78</td><td>Sample 78</td><td>Female</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr><tr><td>Sample 73</td><td>Sample 73</td><td>Female</td><td>Estonia</td><td><a href="/medgen/451904">Preeclampsia </a><br /></td></tr></tbody></table></div></div></dl><dl class="Samplesetsum"><dt>Sampleset ID:</dt><dd>7</dd><dt>Name:</dt><dd>Gestational diabetes</dd><dt>Sampleset Type:</dt><dd>Case</dd><dt>Description:</dt><dd>Maternal and paternal blood DNA samples drawn postpartum from term pregnancies complicated with maternal gestational diabetes</dd><dt>Size:</dt><dd>16</dd><dt>Organisms:</dt><dd><a title="Link to Taxonomy" href="/Taxonomy/Browser/wwwtax.cgi?mode=Info&id=9606">Homo sapiens</a></dd><dt>Sampleset Phenotype(s):</dt><dd><a title="Link to MeSH" href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a></dd><li><a href="https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_study/csv/samples_for_estd216_7.csv.gz" title="Download Samples as CSV file">Download Samples as CSV file</a></li><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table data-jig="ncbigrid" id="samplesetshere" data-jigconfig="isPageable: true, pageSize:10, isSortable: true, columnTypes: ['str', 'str','str', 'str','str','str','str'], sortFunctions: [strnumSort2,strnumSort2,strnumSort2,strnumSort,null,null,null], sortColumn:1, sortColumnDir:1"><caption>Samples for sampleset 7</caption><thead><tr><th>Sample ID</th><th>Subject ID </th><th>Sex</th><th>Ethnicity</th><th>Subject Phenotype</th></tr></thead><tbody><tr><td>Sample 85</td><td>Sample 85</td><td>Male</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 82</td><td>Sample 82</td><td>Male</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 89</td><td>Sample 89</td><td>Female</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 94</td><td>Sample 94</td><td>Female</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 92</td><td>Sample 92</td><td>Female</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 84</td><td>Sample 84</td><td>Male</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 79</td><td>Sample 79</td><td>Male</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 83</td><td>Sample 83</td><td>Male</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 91</td><td>Sample 91</td><td>Female</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 81</td><td>Sample 81</td><td>Male</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 90</td><td>Sample 90</td><td>Female</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 86</td><td>Sample 86</td><td>Male</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 87</td><td>Sample 87</td><td>Female</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 80</td><td>Sample 80</td><td>Male</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 93</td><td>Sample 93</td><td>Female</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr><tr><td>Sample 88</td><td>Sample 88</td><td>Female</td><td>Estonia</td><td><a href="/medgen/759370">Gestational diabetes mellitus uncontrolled </a><br /></td></tr></tbody></table></div></div></dl></div><div id="experdetailsTab"><h2 class="ui-tabs-hide">Experimental Details</h2><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table data-jig="ncbigrid" data-is-sortable="true" data-column-types="["num","str","str","str","numComma"]"><thead><tr><th>Experiment ID</th><th>Type</th><th>Method</th><th>Analysis</th><th>Platforms</th><th>Number of Variant Calls</th></tr></thead><tbody><tr><td>1</td><td>Discovery</td><td>SNP array</td><td>Probe signal intensity</td><td>Illumina HumanOmniExpress Beadchip</td><td>879</td></tr></tbody></table></div></div></div><div id="validationsTab"><h2 class="ui-tabs-hide">Validations</h2><h3 id="validations">No validation data were submitted for this study.</h3></div></div></div></div>
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