esv3363179
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:15,524
- 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: 1417 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1421 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 466 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3363179 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 55,676,856 (-110, +1990) | 55,692,379 (-1580, +120) |
| esv3363179 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 55,444,332 (-110, +1990) | 55,459,855 (-1580, +120) |
| esv3363179 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 55,200,908 (-110, +1990) | 55,216,431 (-1580, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8808579 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8808579 | Remapped | Perfect | NC_000011.10:g.(55 676746_55678846)_( 55690799_55692499) inv15397 | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,676,856 (-110, +1990) | 55,692,379 (-1580, +120) |
| essv8808579 | Remapped | Perfect | NC_000011.9:g.(554 44222_55446322)_(5 5458275_55459975)i nv15397 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,444,332 (-110, +1990) | 55,459,855 (-1580, +120) |
| essv8808579 | Submitted genomic | NC_000011.8:g.(552 00798_55202898)_(5 5214851_55216551)i nv15397 | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,200,908 (-110, +1990) | 55,216,431 (-1580, +120) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8808579 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Pass |