esv3302765
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,361
- 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: 172 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 55 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3302765 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 24,042,870 (-100, +100) | 24,053,230 (-100, +100) |
| esv3302765 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 21,622,834 (-100, +100) | 21,633,194 (-100, +100) |
| esv3302765 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 19,876,832 (-100, +100) | 19,887,192 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7732262 | tandem duplication | SAMN00001634 | Sequencing | Paired-end mapping | 14,025 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7732262 | Remapped | Perfect | NC_000018.10:g.(24 042771_24042971)_( 24053130_24053330) dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 24,042,771 | 24,042,971 | 24,053,130 | 24,053,330 |
| essv7732262 | Remapped | Perfect | NC_000018.9:g.(216 22735_21622935)_(2 1633094_21633294)d up | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 21,622,735 | 21,622,935 | 21,633,094 | 21,633,294 |
| essv7732262 | Submitted genomic | NC_000018.8:g.(198 76733_19876933)_(1 9887092_19887292)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 19,876,733 | 19,876,933 | 19,887,092 | 19,887,292 |