esv2456369
- 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:15,330
- 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: 380 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 407 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2456369 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 16,558,063 | 16,573,392 |
| esv2456369 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 17,038,953 | 17,054,282 |
| esv2456369 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 15,418,953 | 15,434,282 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5290623 | Remapped | Perfect | NC_000022.11:g.(?_ 16558063)_(1657339 2_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,558,063 | 16,573,392 |
| essv5290623 | Remapped | Perfect | NC_000022.10:g.(?_ 17038953)_(1705428 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 17,038,953 | 17,054,282 |
| essv5290623 | Submitted genomic | NC_000022.9:g.(?_1 5418953)_(15434282 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 15,418,953 | 15,434,282 |