esv3689265
- Organism: Homo sapiens
- Study:estd220 (Pettigrew et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:229,202
- Publication(s):Pettigrew et al. 2015
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: 1703 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1703 SVs from 83 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3689265 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 48,791,246 | 48,791,246 | 48,877,993 | 49,020,447 |
| esv3689265 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 49,187,058 | 49,187,058 | 49,273,805 | 49,416,259 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16503572 | duplication | LI-01 | SNP array | SNP genotyping analysis | 39 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16503572 | Remapped | Perfect | NC_000022.11:g.(48 791246_48791246)_( 48877993_49020447) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,791,246 | 48,791,246 | 48,877,993 | 49,020,447 |
| essv16503572 | Submitted genomic | NC_000022.10:g.(49 187058_49187058)_( 49273805_49416259) dup229201 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 49,187,058 | 49,187,058 | 49,273,805 | 49,416,259 |