esv3584087
- Organism: Homo sapiens
- Study:estd212 (Uddin et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:304,870
- Publication(s):Uddin 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: 929 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 929 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3584087 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 137,163,196 | 137,468,065 |
| esv3584087 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 137,920,766 | 138,225,635 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv9835195 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv9835195 | Remapped | Perfect | NC_000002.12:g.(?_ 137163196)_(137468 065_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,163,196 | 137,468,065 |
| essv9835195 | Submitted genomic | NC_000002.11:g.(?_ 137920766)_(138225 635_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 137,920,766 | 138,225,635 |