esv2761871
- 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:20,584
- 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: 299 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 299 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 66 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2761871 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 44,825,213 | 44,845,796 |
| esv2761871 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187605.1 | Chr15|NT_1 87605.1 | 149,555 | 170,122 |
| esv2761871 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 45,117,411 | 45,137,994 |
| esv2761871 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 42,904,703 | 42,925,286 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7000075 | copy number loss | SW_0847 | SNP array | SNP genotyping analysis | 49 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7000075 | Remapped | Good | NT_187605.1:g.(?_1 49555)_(170122_?)d el | GRCh38.p12 | Second Pass | NT_187605.1 | Chr15|NT_1 87605.1 | 149,555 | 170,122 |
| essv7000075 | Remapped | Perfect | NC_000015.10:g.(?_ 44825213)_(4484579 6_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 44,825,213 | 44,845,796 |
| essv7000075 | Remapped | Perfect | NC_000015.9:g.(?_4 5117411)_(45137994 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 45,117,411 | 45,137,994 |
| essv7000075 | Submitted genomic | NC_000015.8:g.(?_4 2904703)_(42925286 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 42,904,703 | 42,925,286 |