esv2479396
- Organism: Homo sapiens
- Study:estd197 (McKernan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45,785
- Description:originalFile=Yoruban_cnv.gff
- Publication(s):McKernan et al. 2009
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: 524 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 552 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 238 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2479396 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 21,526,741 | 21,572,525 |
| esv2479396 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 21,526,850 | 21,572,634 |
| esv2479396 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 21,562,607 | 21,608,391 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5394127 | Remapped | Perfect | NC_000005.10:g.(?_ 21526741)_(2157252 5_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,526,741 | 21,572,525 |
| essv5394127 | Remapped | Perfect | NC_000005.9:g.(?_2 1526850)_(21572634 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,526,850 | 21,572,634 |
| essv5394127 | Submitted genomic | NC_000005.8:g.(?_2 1562607)_(21608391 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 21,562,607 | 21,608,391 |