esv3569454
- Organism: Homo sapiens
- Study:estd212 (Uddin et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:193,830
- Publication(s):Uddin et al. 2014
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: 810 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 810 SVs from 82 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3569454 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 38,902,852 | 39,096,681 |
| esv3569454 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 39,195,053 | 39,388,882 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv9808363 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv9808364 | copy number gain | SNP array | Probe signal intensity | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9808363 | Remapped | Perfect | NC_000015.10:g.(?_ 38902852)_(3909668 1_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 38,902,852 | 39,096,681 |
| essv9808364 | Remapped | Perfect | NC_000015.10:g.(?_ 38902852)_(3909668 1_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 38,902,852 | 39,096,681 |
| essv9808363 | Submitted genomic | NC_000015.9:g.(?_3 9195053)_(39388882 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 39,195,053 | 39,388,882 | ||
| essv9808364 | Submitted genomic | NC_000015.9:g.(?_3 9195053)_(39388882 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 39,195,053 | 39,388,882 |