esv3892660
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:76,245
- 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: 673 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 673 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 370 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3892660 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 32,299,462 | 32,299,462 | 32,375,706 | 32,375,706 |
| esv3892660 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 32,591,663 | 32,591,663 | 32,667,907 | 32,667,907 |
| esv3892660 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 30,378,955 | 30,378,955 | 30,455,199 | 30,455,199 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25778954 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25778954 | Remapped | Perfect | NC_000015.10:g.(?_ 32299462)_(3237570 6_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 32,299,462 | 32,375,706 |
| essv25778954 | Remapped | Perfect | NC_000015.9:g.(?_3 2591663)_(32667907 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 32,591,663 | 32,667,907 |
| essv25778954 | Submitted genomic | NC_000015.8:g.(?_3 0378955)_(30455199 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 30,378,955 | 30,455,199 |