esv3584845
- 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:39,932
- 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: 224 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 224 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 52 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584845 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 51,574,636 | 51,614,567 |
| esv3584845 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 51,439,434 | 51,479,365 |
| esv3584845 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 51,547,393 | 51,587,324 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838622 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv9838622 | Remapped | Perfect | NC_000006.12:g.(?_ 51574636)_(5161456 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 51,574,636 | 51,614,567 |
| essv9838622 | Remapped | Perfect | NC_000006.11:g.(?_ 51439434)_(5147936 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 51,439,434 | 51,479,365 |
| essv9838622 | Submitted genomic | NC_000006.10:g.(?_ 51547393)_(5158732 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 51,547,393 | 51,587,324 |