esv2754234
- 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:264,070
- 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: 974 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 974 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2754234 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 64,063,463 | 64,327,532 |
| esv2754234 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 64,637,596 | 64,901,664 |
| esv2754234 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000013.9 | Chr13 | 63,535,597 | 63,799,665 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6982116 | copy number loss | BEC_521 | SNP array | SNP genotyping analysis | 32 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6982116 | Remapped | Perfect | NC_000013.11:g.(?_ 64063463)_(6432753 2_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 64,063,463 | 64,327,532 |
| essv6982116 | Remapped | Perfect | NC_000013.10:g.(?_ 64637596)_(6490166 4_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,637,596 | 64,901,664 |
| essv6982116 | Submitted genomic | NC_000013.9:g.(?_6 3535597)_(63799665 _?)del | NCBI35 (hg17) | NC_000013.9 | Chr13 | 63,535,597 | 63,799,665 |