esv2453475
- Organism: Homo sapiens
- Study:estd197 (McKernan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:91,344
- Description:originalFile=Yoruban_cnv.gff
- Publication(s):McKernan et al. 2009
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: 497 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 497 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2453475 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 52,229,551 | 52,320,894 |
| esv2453475 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 52,803,686 | 52,895,029 |
| esv2453475 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 51,701,687 | 51,793,030 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5193758 | Remapped | Perfect | NC_000013.11:g.(?_ 52229551)_(5232089 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 52,229,551 | 52,320,894 |
| essv5193758 | Remapped | Perfect | NC_000013.10:g.(?_ 52803686)_(5289502 9_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 52,803,686 | 52,895,029 |
| essv5193758 | Submitted genomic | NC_000013.9:g.(?_5 1701687)_(51793030 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 51,701,687 | 51,793,030 |