esv3689139
- 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:71,699
- 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: 737 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 737 SVs from 80 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3689139 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 16,092,262 | 16,092,262 | 16,163,959 | 16,163,960 |
esv3689139 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 15,949,771 | 15,949,771 | 16,021,468 | 16,021,469 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16503446 | deletion | FR-04 | SNP array | SNP genotyping analysis | 36 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv16503446 | Remapped | Perfect | NC_000008.11:g.(16 092262_16092262)_( 16163959_16163960) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 16,092,262 | 16,092,262 | 16,163,959 | 16,163,960 |
essv16503446 | Submitted genomic | NC_000008.10:g.(15 949771_15949771)_( 16021468_16021469) del71697 | GRCh37 (hg19) | NC_000008.10 | Chr8 | 15,949,771 | 15,949,771 | 16,021,468 | 16,021,469 |