esv3689667
- 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:108,153
- 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: 611 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 611 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3689667 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 114,201,427 | 114,201,427 | 114,309,578 | 114,309,579 |
| esv3689667 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 115,213,656 | 115,213,656 | 115,321,807 | 115,321,808 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16503974 | duplication | LI-13 | SNP array | SNP genotyping analysis | 59 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16503974 | Remapped | Perfect | NC_000008.11:g.(11 4201427_114201427) _(114309578_114309 579)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 114,201,427 | 114,201,427 | 114,309,578 | 114,309,579 |
| essv16503974 | Submitted genomic | NC_000008.10:g.(11 5213656_115213656) _(115321807_115321 808)dup108151 | GRCh37 (hg19) | NC_000008.10 | Chr8 | 115,213,656 | 115,213,656 | 115,321,807 | 115,321,808 |