esv3689145
- 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:61,568
- 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: 682 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 682 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3689145 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 137,383,072 | 137,406,995 | 137,437,382 | 137,444,639 |
| esv3689145 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 140,277,524 | 140,301,447 | 140,331,834 | 140,339,091 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16503452 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16503452 | Remapped | Perfect | NC_000009.12:g.(13 7383072_137406995) _(137437382_137444 639)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 137,383,072 | 137,406,995 | 137,437,382 | 137,444,639 |
| essv16503452 | Submitted genomic | NC_000009.11:g.(14 0277524_140301447) _(140331834_140339 091)dup30387 | GRCh37 (hg19) | NC_000009.11 | Chr9 | 140,277,524 | 140,301,447 | 140,331,834 | 140,339,091 |