esv3901964
- 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:90,942
- 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: 1197 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1197 SVs from 92 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3901964 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 97,124,589 | 97,215,530 |
esv3901964 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 97,790,326 | 97,881,267 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
essv25821072 | copy number gain | SNP array | SNP genotyping analysis | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv25821072 | Remapped | Perfect | NC_000002.12:g.971 24589_97215530dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,124,589 | 97,215,530 |
essv25821072 | Submitted genomic | NC_000002.11:g.977 90326_97881267dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,790,326 | 97,881,267 |