esv3302444
- 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:18,762
- 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: 155 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3302444 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 87,127,942 (-100, +100) | 87,146,703 (-100, +100) |
| esv3302444 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 87,671,173 (-100, +100) | 87,689,934 (-100, +100) |
| esv3302444 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 85,472,177 (-100, +100) | 85,490,938 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7730953 | tandem duplication | SAMN00001694 | Sequencing | Paired-end mapping | 29,487 |
| essv7731572 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7730953 | Remapped | Perfect | NC_000015.10:g.(87 127843_87128043)_( 87146603_87146803) dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 87,127,943 (-100, +100) | 87,146,703 (-100, +100) |
| essv7731572 | Remapped | Perfect | NC_000015.10:g.(87 127843_87128043)_( 87146603_87146803) dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 87,127,943 (-100, +100) | 87,146,703 (-100, +100) |
| essv7730953 | Remapped | Perfect | NC_000015.9:g.(876 71074_87671274)_(8 7689834_87690034)d up | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 87,671,174 (-100, +100) | 87,689,934 (-100, +100) |
| essv7731572 | Remapped | Perfect | NC_000015.9:g.(876 71074_87671274)_(8 7689834_87690034)d up | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 87,671,174 (-100, +100) | 87,689,934 (-100, +100) |
| essv7730953 | Submitted genomic | NC_000015.8:g.(854 72078_85472278)_(8 5490838_85491038)d up | NCBI36 (hg18) | NC_000015.8 | Chr15 | 85,472,178 (-100, +100) | 85,490,938 (-100, +100) | ||
| essv7731572 | Submitted genomic | NC_000015.8:g.(854 72078_85472278)_(8 5490838_85491038)d up | NCBI36 (hg18) | NC_000015.8 | Chr15 | 85,472,178 (-100, +100) | 85,490,938 (-100, +100) |