esv3584792
- Organism: Homo sapiens
- Study:estd213 (Mokhtar 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:30,379
- Publication(s):Mokhtar 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: 842 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 842 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 545 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584792 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 130,057,015 | 130,087,393 |
| esv3584792 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 129,775,858 | 129,806,236 |
| esv3584792 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 131,258,548 | 131,288,926 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838541 | copy number loss | OA003 | SNP array | Probe signal intensity | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838541 | Remapped | Perfect | NC_000003.12:g.(?_ 130057015)_(130087 393_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 130,057,015 | 130,087,393 |
| essv9838541 | Remapped | Perfect | NC_000003.11:g.(?_ 129775858)_(129806 236_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 129,775,858 | 129,806,236 |
| essv9838541 | Submitted genomic | NC_000003.10:g.(?_ 131258548)_(131288 926_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 131,258,548 | 131,288,926 |