esv3302732
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,945
- 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: 139 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302732 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 183,809,276 (-100, +100) | 183,816,220 (-100, +100) |
| esv3302732 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 183,778,410 (-100, +100) | 183,785,354 (-100, +100) |
| esv3302732 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 182,045,033 (-100, +100) | 182,051,977 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7734191 | tandem duplication | SAMN00001593 | Sequencing | Paired-end mapping | 15,444 |
| essv7738910 | tandem duplication | SAMN00001606 | Sequencing | Paired-end mapping | 15,404 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7734191 | Remapped | Perfect | NC_000001.11:g.(18 3809177_183809377) _(183816120_183816 320)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 183,809,177 | 183,809,377 | 183,816,120 | 183,816,320 |
| essv7738910 | Remapped | Perfect | NC_000001.11:g.(18 3809177_183809377) _(183816120_183816 320)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 183,809,177 | 183,809,377 | 183,816,120 | 183,816,320 |
| essv7734191 | Remapped | Perfect | NC_000001.10:g.(18 3778311_183778511) _(183785254_183785 454)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 183,778,311 | 183,778,511 | 183,785,254 | 183,785,454 |
| essv7738910 | Remapped | Perfect | NC_000001.10:g.(18 3778311_183778511) _(183785254_183785 454)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 183,778,311 | 183,778,511 | 183,785,254 | 183,785,454 |
| essv7734191 | Submitted genomic | NC_000001.9:g.(182 044934_182045134)_ (182051877_1820520 77)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 182,044,934 | 182,045,134 | 182,051,877 | 182,052,077 | ||
| essv7738910 | Submitted genomic | NC_000001.9:g.(182 044934_182045134)_ (182051877_1820520 77)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 182,044,934 | 182,045,134 | 182,051,877 | 182,052,077 |