esv3575709
- 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:548,048
- 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: 2116 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 2116 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3575709 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 62,720,165 | 63,268,212 |
| esv3575709 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 63,585,883 | 64,133,930 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv9771081 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv9771081 | Remapped | Perfect | NC_000004.12:g.(?_ 62720165)_(6326821 2_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 62,720,165 | 63,268,212 |
| essv9771081 | Submitted genomic | NC_000004.11:g.(?_ 63585883)_(6413393 0_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 63,585,883 | 64,133,930 |