esv2581967
- 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:17,605
- 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: 320 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 433 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 141 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2581967 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 148,768,990 | 148,786,594 |
| esv2581967 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 145,098,265 | 145,119,537 |
| esv2581967 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 143,809,622 | 143,830,894 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5164878 | Remapped | Pass | NC_000001.11:g.(?_ 148768990)_(148786 594_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 148,768,990 | 148,786,594 |
| essv5164878 | Remapped | Perfect | NC_000001.10:g.(?_ 145098265)_(145119 537_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,098,265 | 145,119,537 |
| essv5164878 | Submitted genomic | NC_000001.9:g.(?_1 43809622)_(1438308 94_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 143,809,622 | 143,830,894 |