esv3302860
- 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:51,557
- 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3302860 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 173,521,497 (-100, +100) | 173,573,053 (-100, +100) |
| esv3302860 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 173,239,287 (-100, +100) | 173,290,843 (-100, +100) |
| esv3302860 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 174,721,981 (-100, +100) | 174,773,537 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7733786 | tandem duplication | SAMN00801646 | Sequencing | Paired-end mapping | 11,757 |
| essv7734393 | tandem duplication | SAMN00001548 | Sequencing | Paired-end mapping | 9,117 |
| essv7734508 | 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7733786 | Remapped | Perfect | NC_000003.12:g.(17 3521398_173521598) _(173572953_173573 153)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 173,521,398 | 173,521,598 | 173,572,953 | 173,573,153 |
| essv7734393 | Remapped | Perfect | NC_000003.12:g.(17 3521398_173521598) _(173572953_173573 153)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 173,521,398 | 173,521,598 | 173,572,953 | 173,573,153 |
| essv7734508 | Remapped | Perfect | NC_000003.12:g.(17 3521398_173521598) _(173572953_173573 153)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 173,521,398 | 173,521,598 | 173,572,953 | 173,573,153 |
| essv7733786 | Remapped | Perfect | NC_000003.11:g.(17 3239188_173239388) _(173290743_173290 943)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 173,239,188 | 173,239,388 | 173,290,743 | 173,290,943 |
| essv7734393 | Remapped | Perfect | NC_000003.11:g.(17 3239188_173239388) _(173290743_173290 943)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 173,239,188 | 173,239,388 | 173,290,743 | 173,290,943 |
| essv7734508 | Remapped | Perfect | NC_000003.11:g.(17 3239188_173239388) _(173290743_173290 943)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 173,239,188 | 173,239,388 | 173,290,743 | 173,290,943 |
| essv7733786 | Submitted genomic | NC_000003.10:g.(17 4721882_174722082) _(174773437_174773 637)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 174,721,882 | 174,722,082 | 174,773,437 | 174,773,637 | ||
| essv7734393 | Submitted genomic | NC_000003.10:g.(17 4721882_174722082) _(174773437_174773 637)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 174,721,882 | 174,722,082 | 174,773,437 | 174,773,637 | ||
| essv7734508 | Submitted genomic | NC_000003.10:g.(17 4721882_174722082) _(174773437_174773 637)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 174,721,882 | 174,722,082 | 174,773,437 | 174,773,637 |