esv3302653
- 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:51,582
- 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: 429 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 429 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302653 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 173,521,478 (-100, +100) | 173,573,059 (-100, +100) |
| esv3302653 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 173,239,268 (-100, +100) | 173,290,849 (-100, +100) |
| esv3302653 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 174,721,962 (-100, +100) | 174,773,543 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7731060 | tandem duplication | SAMN00801914 | Sequencing | Paired-end mapping | 26,039 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7731060 | Remapped | Perfect | NC_000003.12:g.(17 3521379_173521579) _(173572959_173573 159)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 173,521,479 (-100, +100) | 173,573,059 (-100, +100) |
| essv7731060 | Remapped | Perfect | NC_000003.11:g.(17 3239169_173239369) _(173290749_173290 949)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 173,239,269 (-100, +100) | 173,290,849 (-100, +100) |
| essv7731060 | Submitted genomic | NC_000003.10:g.(17 4721863_174722063) _(174773443_174773 643)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 174,721,963 (-100, +100) | 174,773,543 (-100, +100) |