esv3584052
- 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:247,599
- 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: 678 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 678 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584052 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 126,049,176 | 126,296,774 |
| esv3584052 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 126,806,753 | 127,054,351 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv9835079 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv9835079 | Remapped | Perfect | NC_000002.12:g.(?_ 126049176)_(126296 774_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 126,049,176 | 126,296,774 |
| essv9835079 | Submitted genomic | NC_000002.11:g.(?_ 126806753)_(127054 351_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 126,806,753 | 127,054,351 |