esv3891503
- 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:240,695
- 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: 997 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 997 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 373 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3891503 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 4,141,108 | 4,141,108 | 4,381,802 | 4,381,802 |
| esv3891503 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 4,188,698 | 4,188,698 | 4,429,392 | 4,429,392 |
| esv3891503 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 4,166,573 | 4,166,573 | 4,407,267 | 4,407,267 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25787166 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25787166 | Remapped | Perfect | NC_000002.12:g.(?_ 4141108)_(4381802_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 4,141,108 | 4,381,802 |
| essv25787166 | Remapped | Perfect | NC_000002.11:g.(?_ 4188698)_(4429392_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 4,188,698 | 4,429,392 |
| essv25787166 | Submitted genomic | NC_000002.10:g.(?_ 4166573)_(4407267_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 4,166,573 | 4,407,267 |