esv2763738
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:162,422
- Publication(s):Vogler et al. 2010
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: 1457 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1457 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 557 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2763738 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 1,778,550 | 1,940,971 |
| esv2763738 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 1,820,234 | 1,982,655 |
| esv2763738 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 1,795,234 | 1,957,655 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7024356 | copy number loss | SW_0198 | SNP array | SNP genotyping analysis | 45 |
| essv7024367 | copy number gain | SW_0018 | SNP array | SNP genotyping analysis | 44 |
| essv7024378 | copy number loss | SW_1377 | SNP array | SNP genotyping analysis | 26 |
| essv7024389 | copy number loss | SW_1132 | SNP array | SNP genotyping analysis | 34 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7024356 | Remapped | Perfect | NC_000003.12:g.(?_ 1778550)_(1940971_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 1,778,550 | 1,940,971 |
| essv7024367 | Remapped | Perfect | NC_000003.12:g.(?_ 1785824)_(1891130_ ?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 1,785,824 | 1,891,130 |
| essv7024378 | Remapped | Perfect | NC_000003.12:g.(?_ 1817534)_(1839270_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 1,817,534 | 1,839,270 |
| essv7024389 | Remapped | Perfect | NC_000003.12:g.(?_ 1839270)_(1913448_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 1,839,270 | 1,913,448 |
| essv7024356 | Remapped | Perfect | NC_000003.11:g.(?_ 1820234)_(1982655_ ?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 1,820,234 | 1,982,655 |
| essv7024367 | Remapped | Perfect | NC_000003.11:g.(?_ 1827508)_(1932814_ ?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 1,827,508 | 1,932,814 |
| essv7024378 | Remapped | Perfect | NC_000003.11:g.(?_ 1859218)_(1880954_ ?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 1,859,218 | 1,880,954 |
| essv7024389 | Remapped | Perfect | NC_000003.11:g.(?_ 1880954)_(1955132_ ?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 1,880,954 | 1,955,132 |
| essv7024356 | Submitted genomic | NC_000003.10:g.(?_ 1795234)_(1957655_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 1,795,234 | 1,957,655 | ||
| essv7024367 | Submitted genomic | NC_000003.10:g.(?_ 1802508)_(1907814_ ?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 1,802,508 | 1,907,814 | ||
| essv7024378 | Submitted genomic | NC_000003.10:g.(?_ 1834218)_(1855954_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 1,834,218 | 1,855,954 | ||
| essv7024389 | Submitted genomic | NC_000003.10:g.(?_ 1855954)_(1930132_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 1,855,954 | 1,930,132 |