esv3424547
- 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:21,442
- 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: 294 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 294 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3424547 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 26,782,003 (-110, +1990) | 26,803,444 (-1580, +120) |
| esv3424547 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 26,800,120 (-110, +1990) | 26,821,561 (-1580, +120) |
| esv3424547 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 26,710,041 (-110, +1990) | 26,731,482 (-1580, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8809611 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8809611 | Remapped | Perfect | NC_000023.11:g.(26 781893_26783993)_( 26801864_26803564) inv20925 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 26,782,003 (-110, +1990) | 26,803,444 (-1580, +120) |
| essv8809611 | Remapped | Perfect | NC_000023.10:g.(26 800010_26802110)_( 26819981_26821681) inv20925 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 26,800,120 (-110, +1990) | 26,821,561 (-1580, +120) |
| essv8809611 | Submitted genomic | NC_000023.9:g.(267 09931_26712031)_(2 6729902_26731602)i nv20925 | NCBI36 (hg18) | NC_000023.9 | ChrX | 26,710,041 (-110, +1990) | 26,731,482 (-1580, +120) |