esv2761039
- 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:9,638
- 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: 257 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 257 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2761039 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 166,850,053 | 166,859,690 |
| esv2761039 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 167,263,541 | 167,273,178 |
| esv2761039 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 167,183,531 | 167,193,168 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7014366 | copy number loss | RW_0278 | SNP array | SNP genotyping analysis | 36 |
| essv7014368 | copy number loss | RW_0538 | SNP array | SNP genotyping analysis | 48 |
| essv7014369 | copy number loss | RW_0621 | SNP array | SNP genotyping analysis | 46 |
| essv7014370 | copy number loss | RW_0656 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7014366 | Remapped | Perfect | NC_000006.12:g.(?_ 166850053)_(166859 690_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 166,850,053 | 166,859,690 |
| essv7014368 | Remapped | Perfect | NC_000006.12:g.(?_ 166853857)_(166855 089_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 166,853,857 | 166,855,089 |
| essv7014369 | Remapped | Perfect | NC_000006.12:g.(?_ 166853857)_(166855 960_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 166,853,857 | 166,855,960 |
| essv7014370 | Remapped | Perfect | NC_000006.12:g.(?_ 166853857)_(166855 960_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 166,853,857 | 166,855,960 |
| essv7014366 | Remapped | Perfect | NC_000006.11:g.(?_ 167263541)_(167273 178_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 167,263,541 | 167,273,178 |
| essv7014368 | Remapped | Perfect | NC_000006.11:g.(?_ 167267345)_(167268 577_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 167,267,345 | 167,268,577 |
| essv7014369 | Remapped | Perfect | NC_000006.11:g.(?_ 167267345)_(167269 448_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 167,267,345 | 167,269,448 |
| essv7014370 | Remapped | Perfect | NC_000006.11:g.(?_ 167267345)_(167269 448_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 167,267,345 | 167,269,448 |
| essv7014366 | Submitted genomic | NC_000006.10:g.(?_ 167183531)_(167193 168_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 167,183,531 | 167,193,168 | ||
| essv7014368 | Submitted genomic | NC_000006.10:g.(?_ 167187335)_(167188 567_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 167,187,335 | 167,188,567 | ||
| essv7014369 | Submitted genomic | NC_000006.10:g.(?_ 167187335)_(167189 438_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 167,187,335 | 167,189,438 | ||
| essv7014370 | Submitted genomic | NC_000006.10:g.(?_ 167187335)_(167189 438_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 167,187,335 | 167,189,438 |