esv3692576
- 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:91,310
- 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: 444 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 445 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3692576 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 18,072,810 | 18,072,810 | 18,164,118 | 18,164,119 |
| esv3692576 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 18,225,744 | 18,225,744 | 18,317,052 | 18,317,053 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16506848 | deletion | FR-39-Sib | SNP array | SNP genotyping analysis | 31 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16506848 | Remapped | Perfect | NC_000012.12:g.(18 072810_18072810)_( 18164118_18164119) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 18,072,810 | 18,072,810 | 18,164,118 | 18,164,119 |
| essv16506848 | Submitted genomic | NC_000012.11:g.(18 225744_18225744)_( 18317052_18317053) del91308 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 18,225,744 | 18,225,744 | 18,317,052 | 18,317,053 |