esv3392325
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:67,799
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 1332 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1370 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 449 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3392325 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 189,618,604 (-1000, +1000) | 189,686,402 (-1000, +1000) |
| esv3392325 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 190,539,758 (-1000, +1000) | 190,607,556 (-1000, +1000) |
| esv3392325 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 190,776,752 (-1000, +1000) | 190,844,550 (-1000, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8694326 | duplication | SAMN00801914 | Sequencing | Read depth | 26,039 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8694326 | Remapped | Perfect | NC_000004.12:g.(18 9617604_189619604) _(189685402_189687 402)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,618,604 (-1000, +1000) | 189,686,402 (-1000, +1000) |
| essv8694326 | Remapped | Perfect | NC_000004.11:g.(19 0538758_190540758) _(190606556_190608 556)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,539,758 (-1000, +1000) | 190,607,556 (-1000, +1000) |
| essv8694326 | Submitted genomic | NC_000004.10:g.(19 0775752_190777752) _(190843550_190845 550)dup67700 | NCBI36 (hg18) | NC_000004.10 | Chr4 | 190,776,752 (-1000, +1000) | 190,844,550 (-1000, +1000) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8694326 | 18 | SAMN00801914 | Oligo aCGH | Probe signal intensity | Pass |