esv2764093
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:74,788
- 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: 750 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 750 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 291 SVs from 21 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 |
---|---|---|---|---|---|---|---|---|---|
esv2764093 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 16,092,468 | 16,167,255 |
esv2764093 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 15,949,977 | 16,024,764 |
esv2764093 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 15,994,348 | 16,069,135 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv6992760 | copy number loss | SW_0116 | SNP array | SNP genotyping analysis | 34 |
essv6992761 | copy number loss | SW_1348 | SNP array | SNP genotyping analysis | 26 |
essv6992762 | copy number loss | SW_1153 | SNP array | SNP genotyping analysis | 48 |
essv6992763 | copy number gain | SW_1318 | SNP array | SNP genotyping analysis | 38 |
essv6992764 | copy number loss | SW_1199 | SNP array | SNP genotyping analysis | 37 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv6992760 | Remapped | Perfect | NC_000008.11:g.(?_ 16092468)_(1616395 9_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 16,092,468 | 16,163,959 |
essv6992761 | Remapped | Perfect | NC_000008.11:g.(?_ 16092468)_(1616395 9_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 16,092,468 | 16,163,959 |
essv6992762 | Remapped | Perfect | NC_000008.11:g.(?_ 16092468)_(1616687 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 16,092,468 | 16,166,875 |
essv6992763 | Remapped | Perfect | NC_000008.11:g.(?_ 16105571)_(1612751 9_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 16,105,571 | 16,127,519 |
essv6992764 | Remapped | Perfect | NC_000008.11:g.(?_ 16163288)_(1616725 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 16,163,288 | 16,167,255 |
essv6992760 | Remapped | Perfect | NC_000008.10:g.(?_ 15949977)_(1602146 8_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 15,949,977 | 16,021,468 |
essv6992761 | Remapped | Perfect | NC_000008.10:g.(?_ 15949977)_(1602146 8_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 15,949,977 | 16,021,468 |
essv6992762 | Remapped | Perfect | NC_000008.10:g.(?_ 15949977)_(1602438 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 15,949,977 | 16,024,384 |
essv6992763 | Remapped | Perfect | NC_000008.10:g.(?_ 15963080)_(1598502 8_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 15,963,080 | 15,985,028 |
essv6992764 | Remapped | Perfect | NC_000008.10:g.(?_ 16020797)_(1602476 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 16,020,797 | 16,024,764 |
essv6992760 | Submitted genomic | NC_000008.9:g.(?_1 5994348)_(16065839 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 15,994,348 | 16,065,839 | ||
essv6992761 | Submitted genomic | NC_000008.9:g.(?_1 5994348)_(16065839 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 15,994,348 | 16,065,839 | ||
essv6992762 | Submitted genomic | NC_000008.9:g.(?_1 5994348)_(16068755 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 15,994,348 | 16,068,755 | ||
essv6992763 | Submitted genomic | NC_000008.9:g.(?_1 6007451)_(16029399 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 16,007,451 | 16,029,399 | ||
essv6992764 | Submitted genomic | NC_000008.9:g.(?_1 6065168)_(16069135 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 16,065,168 | 16,069,135 |