esv3901249
- 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:94,177
- 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: 648 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 548 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 726 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3901249 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | 36,780,473 | 36,874,595 |
| esv3901249 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 1,016,716 | 1,110,892 |
| esv3901249 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 35,137,651 | 35,231,827 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25822154 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25822154 | Remapped | Perfect | NT_187614.1:g.1016 716_1110892dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 1,016,716 | 1,110,892 |
| essv25822154 | Remapped | Good | NC_000017.11:g.367 80473_36874595dup | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 36,780,473 | 36,874,595 |
| essv25822154 | Submitted genomic | NC_000017.10:g.351 37651_35231827dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 35,137,651 | 35,231,827 |