esv3691686
- 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:93,505
- 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: 904 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 904 SVs from 69 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3691686 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 14,640,308 | 14,649,799 | 14,733,811 | 14,733,812 |
esv3691686 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 14,620,954 | 14,630,445 | 14,714,457 | 14,714,458 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16505993 | deletion | FR-33 | SNP array | SNP genotyping analysis | 40 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv16505993 | Remapped | Perfect | NC_000020.11:g.(14 640308_14649799)_( 14733811_14733812) del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,640,308 | 14,649,799 | 14,733,811 | 14,733,812 |
essv16505993 | Submitted genomic | NC_000020.10:g.(14 620954_14630445)_( 14714457_14714458) del84012 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,620,954 | 14,630,445 | 14,714,457 | 14,714,458 |