esv2504345
- 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:23,929
- 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: 467 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 467 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2504345 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 156,049,801 | 156,073,729 |
| esv2504345 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 155,476,811 | 155,500,739 |
| esv2504345 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 155,409,389 | 155,433,317 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5329685 | Remapped | Perfect | NC_000005.10:g.(?_ 156049801)_(156073 729_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,049,801 | 156,073,729 |
| essv5329685 | Remapped | Perfect | NC_000005.9:g.(?_1 55476811)_(1555007 39_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 155,476,811 | 155,500,739 |
| essv5329685 | Submitted genomic | NC_000005.8:g.(?_1 55409389)_(1554333 17_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 155,409,389 | 155,433,317 |