esv2753383
- 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:236,101
- 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: 916 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 916 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2753383 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 91,574,345 | 91,810,445 |
| esv2753383 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 92,226,599 | 92,462,699 |
| esv2753383 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000013.9 | Chr13 | 91,024,600 | 91,260,700 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6988661 | copy number gain | BEC_644 | SNP array | SNP genotyping analysis | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6988661 | Remapped | Perfect | NC_000013.11:g.(?_ 91574345)_(9181044 5_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 91,574,345 | 91,810,445 |
| essv6988661 | Remapped | Perfect | NC_000013.10:g.(?_ 92226599)_(9246269 9_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 92,226,599 | 92,462,699 |
| essv6988661 | Submitted genomic | NC_000013.9:g.(?_9 1024600)_(91260700 _?)dup | NCBI35 (hg17) | NC_000013.9 | Chr13 | 91,024,600 | 91,260,700 |