esv3901808
- Organism: Homo sapiens
- Study:estd225 (Magnusson et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:86,402
- Publication(s):Magnusson et al. 2016
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: 349 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 349 SVs from 55 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3901808 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 80,253,835 | 80,340,236 |
esv3901808 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 80,647,615 | 80,734,016 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
essv25820931 | copy number loss | SNP array | SNP genotyping analysis | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv25820931 | Remapped | Perfect | NC_000012.12:g.802 53835_80340236del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 80,253,835 | 80,340,236 |
essv25820931 | Submitted genomic | NC_000012.11:g.806 47615_80734016del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 80,647,615 | 80,734,016 |