esv3584516
- 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:201,198
- 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: 2246 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2246 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1265 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584516 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 68,422,420 | 68,623,617 |
| esv3584516 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 69,288,138 | 69,489,335 |
| esv3584516 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 68,970,733 | 69,171,930 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838930 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv9838930 | Remapped | Perfect | NC_000004.12:g.(?_ 68422420)_(6862361 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,422,420 | 68,623,617 |
| essv9838930 | Remapped | Perfect | NC_000004.11:g.(?_ 69288138)_(6948933 5_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 69,288,138 | 69,489,335 |
| essv9838930 | Submitted genomic | NC_000004.10:g.(?_ 68970733)_(6917193 0_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 68,970,733 | 69,171,930 |