esv2573942
- 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:2,283
- 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: 1821 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1917 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1087 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2573942 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 19,869,209 | 19,871,491 |
| esv2573942 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 20,337,368 | 20,339,650 |
| esv2573942 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 19,407,208 | 19,409,490 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5224942 | Remapped | Perfect | NC_000014.9:g.(?_1 9869209)_(19871491 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,869,209 | 19,871,491 |
| essv5224942 | Remapped | Perfect | NC_000014.8:g.(?_2 0337368)_(20339650 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,337,368 | 20,339,650 |
| essv5224942 | Submitted genomic | NC_000014.7:g.(?_1 9407208)_(19409490 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,407,208 | 19,409,490 |