esv3332823
- 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:23,976
- 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: 269 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3332823 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,915,446 (-110, +1990) | 1,939,421 (-1580, +120) |
| esv3332823 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 1,936,676 (-110, +1990) | 1,960,651 (-1580, +120) |
| esv3332823 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 1,893,252 (-110, +1990) | 1,917,227 (-1580, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8808558 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8808558 | Remapped | Perfect | NC_000011.10:g.(19 15336_1917436)_(19 37841_1939541)inv2 4522 | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,915,446 (-110, +1990) | 1,939,421 (-1580, +120) |
| essv8808558 | Remapped | Perfect | NC_000011.9:g.(193 6566_1938666)_(195 9071_1960771)inv24 522 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,936,676 (-110, +1990) | 1,960,651 (-1580, +120) |
| essv8808558 | Submitted genomic | NC_000011.8:g.(189 3142_1895242)_(191 5647_1917347)inv24 522 | NCBI36 (hg18) | NC_000011.8 | Chr11 | 1,893,252 (-110, +1990) | 1,917,227 (-1580, +120) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8808558 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |