esv2630464
- 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:52,558
- 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: 544 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 539 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2630464 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 148,990,808 | 149,043,365 |
| esv2630464 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 144,841,079 | 144,893,666 |
| esv2630464 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 550,065 | 598,540 |
| esv2630464 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 143,552,436 | 143,605,023 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5197025 | Remapped | Good | NC_000001.11:g.(?_ 148990808)_(149043 365_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 148,990,808 | 149,043,365 |
| essv5197025 | Remapped | Pass | NW_003871056.3:g.( ?_550065)_(598540_ ?)dup | GRCh37.p13 | Second Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 550,065 | 598,540 |
| essv5197025 | Remapped | Perfect | NC_000001.10:g.(?_ 144841079)_(144893 666_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 144,841,079 | 144,893,666 |
| essv5197025 | Submitted genomic | NC_000001.9:g.(?_1 43552436)_(1436050 23_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 143,552,436 | 143,605,023 |