esv3584965
- 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:32,972
- 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: 991 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 991 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 641 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584965 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 1,580,276 | 1,613,247 |
| esv3584965 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 1,560,922 | 1,593,893 |
| esv3584965 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 1,508,922 | 1,541,893 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838571 | copy number gain | 1WS | SNP array | Probe signal intensity | 43 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838571 | Remapped | Perfect | NC_000020.11:g.(?_ 1580276)_(1613247_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,276 | 1,613,247 |
| essv9838571 | Remapped | Perfect | NC_000020.10:g.(?_ 1560922)_(1593893_ ?)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,560,922 | 1,593,893 |
| essv9838571 | Submitted genomic | NC_000020.9:g.(?_1 508922)_(1541893_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,508,922 | 1,541,893 |