esv3692380
- 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:67,620
- 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: 822 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 822 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3692380 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 105,097,815 | 105,097,815 | 105,158,882 | 105,165,434 |
| esv3692380 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 104,433,516 | 104,433,516 | 104,494,583 | 104,501,135 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16506652 | deletion | FR-34 | SNP array | SNP genotyping analysis | 46 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16506652 | Remapped | Perfect | NC_000005.10:g.(10 5097815_105097815) _(105158882_105165 434)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 105,097,815 | 105,097,815 | 105,158,882 | 105,165,434 |
| essv16506652 | Submitted genomic | NC_000005.9:g.(104 433516_104433516)_ (104494583_1045011 35)del61067 | GRCh37 (hg19) | NC_000005.9 | Chr5 | 104,433,516 | 104,433,516 | 104,494,583 | 104,501,135 |