esv3387252
- 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:137,289
- 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: 226 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 1054 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 356 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3387252 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000001.11 | Chr1 | 120,179,980 (-1000, +1000) | 120,317,268 (-1000, +1000) |
| esv3387252 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 144,923,395 (-1000, +1000) | 145,092,993 (-1000, +1000) |
| esv3387252 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 143,634,752 (-1000, +1000) | 143,804,350 (-1000, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8691909 | duplication | SAMN00801888 | Sequencing | Read depth | 69,298 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8691909 | Remapped | Pass | NC_000001.11:g.(12 0178980_120180980) _(120316268_120318 268)dup | GRCh38.p12 | Second Pass | NC_000001.11 | Chr1 | 120,179,980 (-1000, +1000) | 120,317,268 (-1000, +1000) |
| essv8691909 | Remapped | Perfect | NC_000001.10:g.(14 4922395_144924395) _(145091993_145093 993)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 144,923,395 (-1000, +1000) | 145,092,993 (-1000, +1000) |
| essv8691909 | Submitted genomic | NC_000001.9:g.(143 633752_143635752)_ (143803350_1438053 50)dup169500 | NCBI36 (hg18) | NC_000001.9 | Chr1 | 143,634,752 (-1000, +1000) | 143,804,350 (-1000, +1000) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8691909 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Pass |