esv3302665
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,988
- 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: 109 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 47 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302665 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 21,581,817 (-100, +100) | 21,590,804 (-100, +100) |
| esv3302665 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 22,049,951 (-100, +100) | 22,058,923 (-100, +100) |
| esv3302665 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 21,119,791 (-100, +100) | 21,128,763 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7730893 | tandem duplication | SAMN00001694 | Sequencing | Paired-end mapping | 29,487 |
| essv7731224 | tandem duplication | SAMN00001695 | Sequencing | Paired-end mapping | 37,049 |
| essv7731665 | tandem duplication | SAMN00001696 | Sequencing | Paired-end mapping | 44,056 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7730893 | Remapped | Good | NC_000014.9:g.(215 81718_21581918)_(2 1590704_21590904)d up | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 21,581,818 (-100, +100) | 21,590,804 (-100, +100) |
| essv7731224 | Remapped | Good | NC_000014.9:g.(215 81718_21581918)_(2 1590704_21590904)d up | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 21,581,818 (-100, +100) | 21,590,804 (-100, +100) |
| essv7731665 | Remapped | Good | NC_000014.9:g.(215 81718_21581918)_(2 1590704_21590904)d up | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 21,581,818 (-100, +100) | 21,590,804 (-100, +100) |
| essv7730893 | Remapped | Perfect | NC_000014.8:g.(220 49852_22050052)_(2 2058823_22059023)d up | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 22,049,952 (-100, +100) | 22,058,923 (-100, +100) |
| essv7731224 | Remapped | Perfect | NC_000014.8:g.(220 49852_22050052)_(2 2058823_22059023)d up | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 22,049,952 (-100, +100) | 22,058,923 (-100, +100) |
| essv7731665 | Remapped | Perfect | NC_000014.8:g.(220 49852_22050052)_(2 2058823_22059023)d up | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 22,049,952 (-100, +100) | 22,058,923 (-100, +100) |
| essv7730893 | Submitted genomic | NC_000014.7:g.(211 19692_21119892)_(2 1128663_21128863)d up | NCBI36 (hg18) | NC_000014.7 | Chr14 | 21,119,792 (-100, +100) | 21,128,763 (-100, +100) | ||
| essv7731224 | Submitted genomic | NC_000014.7:g.(211 19692_21119892)_(2 1128663_21128863)d up | NCBI36 (hg18) | NC_000014.7 | Chr14 | 21,119,792 (-100, +100) | 21,128,763 (-100, +100) | ||
| essv7731665 | Submitted genomic | NC_000014.7:g.(211 19692_21119892)_(2 1128663_21128863)d up | NCBI36 (hg18) | NC_000014.7 | Chr14 | 21,119,792 (-100, +100) | 21,128,763 (-100, +100) |