esv3689382
- Organism: Homo sapiens
- Study:estd220 (Pettigrew et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:120,574
- Publication(s):Pettigrew et al. 2015
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: 623 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 624 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3689382 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 126,213,494 | 126,213,494 | 126,334,067 | 126,334,067 |
| esv3689382 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 127,225,738 | 127,225,738 | 127,346,311 | 127,346,312 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16503689 | deletion | LI-06 | SNP array | SNP genotyping analysis | 43 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16503689 | Remapped | Good | NC_000008.11:g.(12 6213494_126213494) _(126334067_126334 067)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 126,213,494 | 126,213,494 | 126,334,067 | 126,334,067 |
| essv16503689 | Submitted genomic | NC_000008.10:g.(12 7225738_127225738) _(127346311_127346 312)del120573 | GRCh37 (hg19) | NC_000008.10 | Chr8 | 127,225,738 | 127,225,738 | 127,346,311 | 127,346,312 |