esv2753128
- 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:362,773
- 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: 1336 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1336 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 4 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 |
---|---|---|---|---|---|---|---|---|---|
esv2753128 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 102,378,043 | 102,740,815 |
esv2753128 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 102,843,599 | 103,206,371 |
esv2753128 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 102,555,620 | 102,918,392 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv6989553 | copy number loss | BEC_515 | SNP array | SNP genotyping analysis | 28 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv6989553 | Remapped | Perfect | NC_000001.11:g.(?_ 102378043)_(102740 815_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 102,378,043 | 102,740,815 |
essv6989553 | Remapped | Perfect | NC_000001.10:g.(?_ 102843599)_(103206 371_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 102,843,599 | 103,206,371 |
essv6989553 | Submitted genomic | NC_000001.8:g.(?_1 02555620)_(1029183 92_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 102,555,620 | 102,918,392 |