esv3302965
- 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:11,051
- 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: 126 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302965 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 40,541,275 (-100, +100) | 40,552,325 (-100, +100) |
| esv3302965 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 38,697,527 (-100, +100) | 38,708,577 (-100, +100) |
| esv3302965 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 35,951,053 (-100, +100) | 35,962,103 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7732494 | tandem duplication | SAMN00001599 | Sequencing | Paired-end mapping | 14,998 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7732494 | Remapped | Perfect | NC_000017.11:g.(40 541176_40541376)_( 40552225_40552425) dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 40,541,176 | 40,541,376 | 40,552,225 | 40,552,425 |
| essv7732494 | Remapped | Perfect | NC_000017.10:g.(38 697428_38697628)_( 38708477_38708677) dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 38,697,428 | 38,697,628 | 38,708,477 | 38,708,677 |
| essv7732494 | Submitted genomic | NC_000017.9:g.(359 50954_35951154)_(3 5962003_35962203)d up | NCBI36 (hg18) | NC_000017.9 | Chr17 | 35,950,954 | 35,951,154 | 35,962,003 | 35,962,203 |