esv3303030
- 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:7,196
- 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: 87 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3303030 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 63,126,013 (-100, +100) | 63,133,208 (-100, +100) |
| esv3303030 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 63,592,731 (-100, +100) | 63,599,926 (-100, +100) |
| esv3303030 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 62,662,484 (-100, +100) | 62,669,679 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7738896 | tandem duplication | SAMN00001642 | Sequencing | Paired-end mapping | 13,338 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7738896 | Remapped | Perfect | NC_000014.9:g.(631 25914_63126114)_(6 3133108_63133308)d up | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 63,125,914 | 63,126,114 | 63,133,108 | 63,133,308 |
| essv7738896 | Remapped | Perfect | NC_000014.8:g.(635 92632_63592832)_(6 3599826_63600026)d up | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 63,592,632 | 63,592,832 | 63,599,826 | 63,600,026 |
| essv7738896 | Submitted genomic | NC_000014.7:g.(626 62385_62662585)_(6 2669579_62669779)d up | NCBI36 (hg18) | NC_000014.7 | Chr14 | 62,662,385 | 62,662,585 | 62,669,579 | 62,669,779 |