esv3347290
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,244
- 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: 255 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 257 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 144 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3347290 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 150,403,086 (-110, +1990) | 150,416,329 (-1580, +120) |
| esv3347290 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 149,572,034 (-110, +1990) | 149,585,773 (-1580, +120) |
| esv3347290 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,927,484 (-110, +1990) | 5,940,727 (-1580, +120) |
| esv3347290 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 149,322,692 (-110, +1990) | 149,336,431 (-1580, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8809606 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8809606 | Remapped | Good | NC_000023.11:g.(15 0402976_150405076) _(150414749_150416 449)inv13615 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 150,403,086 (-110, +1990) | 150,416,329 (-1580, +120) |
| essv8809606 | Remapped | Good | NW_004070890.2:g.( 5927374_5929474)_( 5939147_5940847)in v13615 | GRCh37.p13 | Second Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,927,484 (-110, +1990) | 5,940,727 (-1580, +120) |
| essv8809606 | Remapped | Perfect | NC_000023.10:g.(14 9571924_149574024) _(149584193_149585 893)inv13615 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 149,572,034 (-110, +1990) | 149,585,773 (-1580, +120) |
| essv8809606 | Submitted genomic | NC_000023.9:g.(149 322582_149324682)_ (149334851_1493365 51)inv13615 | NCBI36 (hg18) | NC_000023.9 | ChrX | 149,322,692 (-110, +1990) | 149,336,431 (-1580, +120) |