esv3576409
- Organism: Homo sapiens
- Study:estd212 (Uddin et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:173,505
- Publication(s):Uddin 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: 1281 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1281 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3576409 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,498,586 |
| esv3576409 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 100,968,363 | 101,141,867 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv9784519 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv9784520 | copy number gain | SNP array | Probe signal intensity | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9784519 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101498 586_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,498,586 |
| essv9784520 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101498 586_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,498,586 |
| essv9784519 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101141 867_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,141,867 | ||
| essv9784520 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101141 867_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,141,867 |