esv2640649
- 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:29,211
- 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: 436 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 434 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2640649 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 21,292,137 | 21,321,347 |
| esv2640649 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 21,195,449 | 21,224,659 |
| esv2640649 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003315950.2 | Chr17|NW_0 03315950.2 | 418,987 | 435,822 |
| esv2640649 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 21,136,042 | 21,165,252 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5263569 | Remapped | Perfect | NC_000017.11:g.(?_ 21292137)_(2132134 7_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 21,292,137 | 21,321,347 |
| essv5263569 | Remapped | Pass | NW_003315950.2:g.( ?_418987)_(435822_ ?)dup | GRCh37.p13 | Second Pass | NW_003315950.2 | Chr17|NW_0 03315950.2 | 418,987 | 435,822 |
| essv5263569 | Remapped | Perfect | NC_000017.10:g.(?_ 21195449)_(2122465 9_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 21,195,449 | 21,224,659 |
| essv5263569 | Submitted genomic | NC_000017.9:g.(?_2 1136042)_(21165252 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 21,136,042 | 21,165,252 |