esv3371816
- 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:130,556
- 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: 212 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 854 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 311 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3371816 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000001.11 | Chr1 | 120,179,980 (-1000, +1000) | 120,310,535 (-1000, +1000) |
| esv3371816 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 144,962,095 (-1000, +1000) | 145,092,993 (-1000, +1000) |
| esv3371816 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 143,673,452 (-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 |
|---|---|---|---|---|---|
| essv8691914 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8691914 | Remapped | Good | NC_000001.11:g.(12 0178980_120180980) _(120309535_120311 535)dup | GRCh38.p12 | Second Pass | NC_000001.11 | Chr1 | 120,179,980 (-1000, +1000) | 120,310,535 (-1000, +1000) |
| essv8691914 | Remapped | Perfect | NC_000001.10:g.(14 4961095_144963095) _(145091993_145093 993)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 144,962,095 (-1000, +1000) | 145,092,993 (-1000, +1000) |
| essv8691914 | Submitted genomic | NC_000001.9:g.(143 672452_143674452)_ (143803350_1438053 50)dup130800 | NCBI36 (hg18) | NC_000001.9 | Chr1 | 143,673,452 (-1000, +1000) | 143,804,350 (-1000, +1000) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8691914 | 18 | SAMN00801914 | Oligo aCGH | Probe signal intensity | Pass |