esv3575363
- Organism: Homo sapiens
- Study:estd212 (Uddin et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:149,188
- 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: 571 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 571 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3575363 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 9,756,808 | 9,905,995 |
| esv3575363 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 9,737,456 | 9,886,643 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv9819173 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv9819173 | Remapped | Perfect | NC_000020.11:g.(?_ 9756808)_(9905995_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,756,808 | 9,905,995 |
| essv9819173 | Submitted genomic | NC_000020.10:g.(?_ 9737456)_(9886643_ ?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,737,456 | 9,886,643 |