esv3691220
- 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:79,196
- 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: 1511 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1511 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3691220 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 162,240,958 | 162,240,958 | 162,320,152 | 162,320,153 |
| esv3691220 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 162,661,990 | 162,661,990 | 162,741,184 | 162,741,185 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16505527 | deletion | FR-18 | SNP array | SNP genotyping analysis | 38 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16505527 | Remapped | Perfect | NC_000006.12:g.(16 2240958_162240958) _(162320152_162320 153)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 162,240,958 | 162,240,958 | 162,320,152 | 162,320,153 |
| essv16505527 | Submitted genomic | NC_000006.11:g.(16 2661990_162661990) _(162741184_162741 185)del79194 | GRCh37 (hg19) | NC_000006.11 | Chr6 | 162,661,990 | 162,661,990 | 162,741,184 | 162,741,185 |