esv3302888
- 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:44,953
- 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: 169 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302888 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 68,676,237 (-100, +100) | 68,721,189 (-100, +100) |
| esv3302888 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 71,291,153 (-100, +100) | 71,336,105 (-100, +100) |
| esv3302888 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 70,480,973 (-100, +100) | 70,525,925 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7731724 | tandem duplication | SAMN00001635 | Sequencing | Paired-end mapping | 14,152 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7731724 | Remapped | Perfect | NC_000009.12:g.(68 676138_68676338)_( 68721089_68721289) dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 68,676,138 | 68,676,338 | 68,721,089 | 68,721,289 |
| essv7731724 | Remapped | Perfect | NC_000009.11:g.(71 291054_71291254)_( 71336005_71336205) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 71,291,054 | 71,291,254 | 71,336,005 | 71,336,205 |
| essv7731724 | Submitted genomic | NC_000009.10:g.(70 480874_70481074)_( 70525825_70526025) dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 70,480,874 | 70,481,074 | 70,525,825 | 70,526,025 |