esv3689144
- 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:59,229
- 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: 729 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 729 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3689144 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 137,253,599 | 137,273,278 | 137,312,826 | 137,312,827 |
| esv3689144 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 140,148,051 | 140,167,730 | 140,207,278 | 140,207,279 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16503451 | duplication | FR-46 | SNP array | SNP genotyping analysis | 30 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16503451 | Remapped | Perfect | NC_000009.12:g.(13 7253599_137273278) _(137312826_137312 827)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 137,253,599 | 137,273,278 | 137,312,826 | 137,312,827 |
| essv16503451 | Submitted genomic | NC_000009.11:g.(14 0148051_140167730) _(140207278_140207 279)dup39548 | GRCh37 (hg19) | NC_000009.11 | Chr9 | 140,148,051 | 140,167,730 | 140,207,278 | 140,207,279 |