esv2754951
- Organism: Homo sapiens
- Study:estd55 (Pinto et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:272,481
- Publication(s):Pinto et al. 2007
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: 1061 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1061 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 6 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 |
---|---|---|---|---|---|---|---|---|---|
esv2754951 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 27,317,660 | 27,590,140 |
esv2754951 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 27,786,866 | 28,059,346 |
esv2754951 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000014.7 | Chr14 | 26,856,706 | 27,129,186 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv6989700 | copy number loss | BEC_527 | SNP array | SNP genotyping analysis | 22 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv6989700 | Remapped | Perfect | NC_000014.9:g.(?_2 7317660)_(27590140 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 27,317,660 | 27,590,140 |
essv6989700 | Remapped | Perfect | NC_000014.8:g.(?_2 7786866)_(28059346 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 27,786,866 | 28,059,346 |
essv6989700 | Submitted genomic | NC_000014.7:g.(?_2 6856706)_(27129186 _?)del | NCBI35 (hg17) | NC_000014.7 | Chr14 | 26,856,706 | 27,129,186 |