esv3302903
- 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:7,906
- 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: 86 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302903 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 118,846,453 (-100, +100) | 118,854,358 (-100, +100) |
| esv3302903 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 121,608,731 (-100, +100) | 121,616,636 (-100, +100) |
| esv3302903 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 120,648,552 (-100, +100) | 120,656,457 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7737240 | tandem duplication | SAMN00001591 | Sequencing | Paired-end mapping | 13,341 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7737240 | Remapped | Perfect | NC_000009.12:g.(11 8846354_118846554) _(118854258_118854 458)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 118,846,354 | 118,846,554 | 118,854,258 | 118,854,458 |
| essv7737240 | Remapped | Perfect | NC_000009.11:g.(12 1608632_121608832) _(121616536_121616 736)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 121,608,632 | 121,608,832 | 121,616,536 | 121,616,736 |
| essv7737240 | Submitted genomic | NC_000009.10:g.(12 0648453_120648653) _(120656357_120656 557)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 120,648,453 | 120,648,653 | 120,656,357 | 120,656,557 |