esv3347785
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Fail
- Clinical Assertions: No
- Region Size:10,411
- 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: 93 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3347785 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 50,887,886 (-110, +1990) | 50,898,296 (-1580, +120) |
| esv3347785 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 50,924,639 (-110, +1990) | 50,935,049 (-1580, +120) |
| esv3347785 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 50,900,336 (-110, +1990) | 50,910,748 (-1580, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8809196 | inversion | SAMN00801888 | Sequencing | Paired-end mapping | 69,298 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8809196 | Remapped | Good | NC_000003.12:g.(50 887776_50889876)_( 50896716_50898416) inv9829 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 50,887,886 (-110, +1990) | 50,898,296 (-1580, +120) |
| essv8809196 | Remapped | Good | NC_000003.11:g.(50 924529_50926629)_( 50933469_50935169) inv9829 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 50,924,639 (-110, +1990) | 50,935,049 (-1580, +120) |
| essv8809196 | Submitted genomic | NC_000003.10:g.(50 900226_50902326)_( 50909168_50910868) inv9829 | NCBI36 (hg18) | NC_000003.10 | Chr3 | 50,900,336 (-110, +1990) | 50,910,748 (-1580, +120) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8809196 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |