esv2539922
- 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:13,343
- 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: 228 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 228 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2539922 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,173,153 | 34,186,495 |
| esv2539922 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 34,174,775 | 34,188,117 |
| esv2539922 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 33,851,170 | 33,864,512 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5356961 | Remapped | Perfect | NC_000004.12:g.(?_ 34173153)_(3418649 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,173,153 | 34,186,495 |
| essv5356961 | Remapped | Perfect | NC_000004.11:g.(?_ 34174775)_(3418811 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,174,775 | 34,188,117 |
| essv5356961 | Submitted genomic | NC_000004.10:g.(?_ 33851170)_(3386451 2_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 33,851,170 | 33,864,512 |