esv3584838
- 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:51,856
- 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: 1337 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1337 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 689 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584838 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 330,704 | 382,559 |
| esv3584838 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 330,704 | 382,559 |
| esv3584838 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 275,704 | 327,559 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838679 | copy number loss | B4 | SNP array | Probe signal intensity | 46 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838679 | Remapped | Perfect | NC_000006.12:g.(?_ 330704)_(382559_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 330,704 | 382,559 |
| essv9838679 | Remapped | Perfect | NC_000006.11:g.(?_ 330704)_(382559_?) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 330,704 | 382,559 |
| essv9838679 | Submitted genomic | NC_000006.10:g.(?_ 275704)_(327559_?) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 275,704 | 327,559 |