esv2496765
- 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:5,394
- 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: 601 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 419 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 221 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2496765 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 40,923,516 | 40,928,909 |
| esv2496765 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 68,996,745 | 69,002,138 |
| esv2496765 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 68,286,565 | 68,291,958 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5343100 | Remapped | Perfect | NC_000009.12:g.(?_ 40923516)_(4092890 9_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 40,923,516 | 40,928,909 |
| essv5343100 | Remapped | Perfect | NC_000009.11:g.(?_ 68996745)_(6900213 8_?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 68,996,745 | 69,002,138 |
| essv5343100 | Submitted genomic | NC_000009.10:g.(?_ 68286565)_(6829195 8_?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 68,286,565 | 68,291,958 |