esv3302756
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,970
- 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: 179 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 179 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302756 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 20,052,588 (-100, +100) | 20,072,557 (-100, +100) |
| esv3302756 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 20,520,747 (-100, +100) | 20,540,716 (-100, +100) |
| esv3302756 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 19,590,587 (-100, +100) | 19,610,556 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7733031 | tandem duplication | SAMN00001580 | Sequencing | Paired-end mapping | 12,837 |
| essv7733182 | tandem duplication | SAMN00001623 | Sequencing | Paired-end mapping | 10,870 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7733031 | Remapped | Perfect | NC_000014.9:g.(200 52489_20052689)_(2 0072457_20072657)d up | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,489 | 20,052,689 | 20,072,457 | 20,072,657 |
| essv7733182 | Remapped | Perfect | NC_000014.9:g.(200 52489_20052689)_(2 0072457_20072657)d up | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,489 | 20,052,689 | 20,072,457 | 20,072,657 |
| essv7733031 | Remapped | Perfect | NC_000014.8:g.(205 20648_20520848)_(2 0540616_20540816)d up | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,648 | 20,520,848 | 20,540,616 | 20,540,816 |
| essv7733182 | Remapped | Perfect | NC_000014.8:g.(205 20648_20520848)_(2 0540616_20540816)d up | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,648 | 20,520,848 | 20,540,616 | 20,540,816 |
| essv7733031 | Submitted genomic | NC_000014.7:g.(195 90488_19590688)_(1 9610456_19610656)d up | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,488 | 19,590,688 | 19,610,456 | 19,610,656 | ||
| essv7733182 | Submitted genomic | NC_000014.7:g.(195 90488_19590688)_(1 9610456_19610656)d up | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,488 | 19,590,688 | 19,610,456 | 19,610,656 |