esv3584791
- 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:35,900
- 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: 827 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 827 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 555 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584791 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 130,044,855 | 130,080,754 |
| esv3584791 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 129,763,698 | 129,799,597 |
| esv3584791 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 131,246,388 | 131,282,287 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838584 | copy number loss | OA053 | SNP array | Probe signal intensity | 35 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838584 | Remapped | Perfect | NC_000003.12:g.(?_ 130044855)_(130080 754_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 130,044,855 | 130,080,754 |
| essv9838584 | Remapped | Perfect | NC_000003.11:g.(?_ 129763698)_(129799 597_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 129,763,698 | 129,799,597 |
| essv9838584 | Submitted genomic | NC_000003.10:g.(?_ 131246388)_(131282 287_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 131,246,388 | 131,282,287 |