esv3692746
- 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:100,544
- 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: 1060 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1060 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3692746 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 2,186,119 | 2,186,119 | 2,286,661 | 2,286,662 |
| esv3692746 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 2,117,558 | 2,117,558 | 2,218,100 | 2,218,101 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16507018 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16507018 | Remapped | Perfect | NC_000001.11:g.(21 86119_2186119)_(22 86661_2286662)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 2,186,119 | 2,186,119 | 2,286,661 | 2,286,662 |
| essv16507018 | Submitted genomic | NC_000001.10:g.(21 17558_2117558)_(22 18100_2218101)dup1 00542 | GRCh37 (hg19) | NC_000001.10 | Chr1 | 2,117,558 | 2,117,558 | 2,218,100 | 2,218,101 |