esv3303098
- 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:15,076
- 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: 144 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3303098 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 50,375,240 (-100, +100) | 50,390,315 (-100, +100) |
| esv3303098 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 50,769,023 (-100, +100) | 50,784,098 (-100, +100) |
| esv3303098 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 49,055,290 (-100, +100) | 49,070,365 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7732845 | tandem duplication | SAMN00001639 | Sequencing | Paired-end mapping | 14,223 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7732845 | Remapped | Perfect | NC_000012.12:g.(50 375141_50375341)_( 50390215_50390415) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 50,375,141 | 50,375,341 | 50,390,215 | 50,390,415 |
| essv7732845 | Remapped | Perfect | NC_000012.11:g.(50 768924_50769124)_( 50783998_50784198) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 50,768,924 | 50,769,124 | 50,783,998 | 50,784,198 |
| essv7732845 | Submitted genomic | NC_000012.10:g.(49 055191_49055391)_( 49070265_49070465) dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 49,055,191 | 49,055,391 | 49,070,265 | 49,070,465 |