esv2762092
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,773
- Publication(s):Vogler et al. 2010
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: 286 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 286 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 15 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 |
---|---|---|---|---|---|---|---|---|---|
esv2762092 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 15,438,791 | 15,440,563 |
esv2762092 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 16,811,110 | 16,812,882 |
esv2762092 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 15,732,981 | 15,734,753 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv7004288 | copy number gain | SW_1000 | SNP array | SNP genotyping analysis | 42 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv7004288 | Remapped | Perfect | NC_000021.9:g.(?_1 5438791)_(15440563 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 15,438,791 | 15,440,563 |
essv7004288 | Remapped | Perfect | NC_000021.8:g.(?_1 6811110)_(16812882 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 16,811,110 | 16,812,882 |
essv7004288 | Submitted genomic | NC_000021.7:g.(?_1 5732981)_(15734753 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 15,732,981 | 15,734,753 |