esv3891582
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:275,551
- Publication(s):Suktitipat et al. 2014
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: 2001 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 2005 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 715 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3891582 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 11,511,860 | 11,606,348 | 11,787,410 | 11,787,410 |
| esv3891582 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 11,511,860 | 11,606,348 | 11,787,410 | 11,787,410 |
| esv3891582 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 11,501,860 | 11,596,348 | 11,777,410 | 11,777,410 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25787190 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25798790 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25800417 | copy number loss | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25787190 | Remapped | Perfect | NC_000009.12:g.(?_ 11511860)_(1178741 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,511,860 | 11,787,410 |
| essv25798790 | Remapped | Perfect | NC_000009.12:g.(?_ 11606348)_(1178741 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,606,348 | 11,787,410 |
| essv25800417 | Remapped | Perfect | NC_000009.12:g.(?_ 11606348)_(1178741 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,606,348 | 11,787,410 |
| essv25787190 | Remapped | Perfect | NC_000009.11:g.(?_ 11511860)_(1178741 0_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,511,860 | 11,787,410 |
| essv25798790 | Remapped | Perfect | NC_000009.11:g.(?_ 11606348)_(1178741 0_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,606,348 | 11,787,410 |
| essv25800417 | Remapped | Perfect | NC_000009.11:g.(?_ 11606348)_(1178741 0_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,606,348 | 11,787,410 |
| essv25787190 | Submitted genomic | NC_000009.10:g.(?_ 11501860)_(1177741 0_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 11,501,860 | 11,777,410 | ||
| essv25798790 | Submitted genomic | NC_000009.10:g.(?_ 11596348)_(1177741 0_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 11,596,348 | 11,777,410 | ||
| essv25800417 | Submitted genomic | NC_000009.10:g.(?_ 11596348)_(1177741 0_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 11,596,348 | 11,777,410 |