esv3365174
- 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:31,538
- 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: 251 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 251 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 52 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3365174 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 128,627,799 (-110, +1990) | 128,659,336 (-1580, +120) |
| esv3365174 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 128,346,642 (-110, +1990) | 128,378,179 (-1580, +120) |
| esv3365174 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 129,829,332 (-110, +1990) | 129,860,869 (-1580, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8809157 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8809157 | Remapped | Perfect | NC_000003.12:g.(12 8627689_128629789) _(128657756_128659 456)inv31847 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,627,799 (-110, +1990) | 128,659,336 (-1580, +120) |
| essv8809157 | Remapped | Perfect | NC_000003.11:g.(12 8346532_128348632) _(128376599_128378 299)inv31847 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 128,346,642 (-110, +1990) | 128,378,179 (-1580, +120) |
| essv8809157 | Submitted genomic | NC_000003.10:g.(12 9829222_129831322) _(129859289_129860 989)inv31847 | NCBI36 (hg18) | NC_000003.10 | Chr3 | 129,829,332 (-110, +1990) | 129,860,869 (-1580, +120) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8809157 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |