esv3328238
- 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:19,512
- 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: 282 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 286 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 12 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3328238 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 46,951,601 (-110, +1990) | 46,971,112 (-1580, +120) |
esv3328238 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 46,810,899 (-110, +1990) | 46,831,206 (-1580, +120) |
esv3328238 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_004166866.1 | ChrX|NW_00 4166866.1 | 201,162 (-110, +1990) | 220,673 (-1580, +120) |
esv3328238 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 46,695,843 (-110, +1990) | 46,716,150 (-1580, +120) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv8809619 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv8809619 | Remapped | Good | NC_000023.11:g.(46 951491_46953591)_( 46969532_46971232) inv20511 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 46,951,601 (-110, +1990) | 46,971,112 (-1580, +120) |
essv8809619 | Remapped | Good | NW_004166866.1:g.( 201052_203152)_(21 9093_220793)inv205 11 | GRCh37.p13 | Second Pass | NW_004166866.1 | ChrX|NW_00 4166866.1 | 201,162 (-110, +1990) | 220,673 (-1580, +120) |
essv8809619 | Remapped | Perfect | NC_000023.10:g.(46 810789_46812889)_( 46829626_46831326) inv20511 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 46,810,899 (-110, +1990) | 46,831,206 (-1580, +120) |
essv8809619 | Submitted genomic | NC_000023.9:g.(466 95733_46697833)_(4 6714570_46716270)i nv20511 | NCBI36 (hg18) | NC_000023.9 | ChrX | 46,695,843 (-110, +1990) | 46,716,150 (-1580, +120) |