esv3692195
- 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:189,618
- 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: 2032 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2032 SVs from 87 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3692195 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 66,494,324 | 66,494,324 | 66,640,661 | 66,683,941 |
esv3692195 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 68,254,082 | 68,254,082 | 68,400,419 | 68,443,699 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16506467 | deletion | FR-22-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 |
---|---|---|---|---|---|---|---|---|---|---|---|
essv16506467 | Remapped | Perfect | NC_000010.11:g.(66 494324_66494324)_( 66640661_66683941) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,494,324 | 66,494,324 | 66,640,661 | 66,683,941 |
essv16506467 | Submitted genomic | NC_000010.10:g.(68 254082_68254082)_( 68400419_68443699) del189617 | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,254,082 | 68,254,082 | 68,400,419 | 68,443,699 |