esv2516798
- 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:37,907
- 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: 332 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 66 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2516798 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 144,984,771 | 145,022,677 |
| esv2516798 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,816,697 | 1,838,090 |
| esv2516798 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 142,697,781 | 142,735,690 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5213959 | Remapped | Good | NC_000001.11:g.(?_ 144984771)_(145022 677_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 144,984,771 | 145,022,677 |
| essv5213959 | Remapped | Pass | NW_003871055.3:g.( ?_1816697)_(183809 0_?)dup | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,816,697 | 1,838,090 |
| essv5213959 | Submitted genomic | NC_000001.9:g.(?_1 42697781)_(1427356 90_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 142,697,781 | 142,735,690 |