esv3990318
- Organism: Homo sapiens
- Study:estd226 (Zlotina et al. 2016)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:7,614,443
- Publication(s):Zlotina et al. 2016
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 30979 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 30863 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 8409 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3990318 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 72,609,801 | 72,609,801 | 80,224,243 | 80,224,243 |
| esv3990318 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 70,277,036 | 70,277,036 | 77,982,126 | 77,982,126 |
| esv3990318 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 68,428,016 | 68,533,620 | 76,083,117 | 76,083,117 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26046345 | copy number loss | 1 | Oligo aCGH | Curated | Heterozygous | essv26046343, essv26046342, essv26046344 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv26046345 | Remapped | Good | NC_000018.10:g.(72 609801_72609801)_( 80224243_80224243) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 72,609,801 | 72,609,801 | 80,224,243 | 80,224,243 |
| essv26046345 | Remapped | Good | NC_000018.9:g.(702 77036_70277036)_(7 7982126_77982126)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 70,277,036 | 70,277,036 | 77,982,126 | 77,982,126 |
| essv26046345 | Submitted genomic | NC_000018.8:g.(684 28016_68533620)_(7 6083117_76083117)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 68,428,016 | 68,533,620 | 76,083,117 | 76,083,117 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv26046345 | 2 | 1 | FISH | Curated | Pass |