esv3302909
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,597
- 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: 353 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 353 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 184 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302909 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 54,686,246 (-100, +100) | 54,709,842 (-100, +100) |
| esv3302909 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 56,446,006 (-100, +100) | 56,469,602 (-100, +100) |
| esv3302909 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 56,116,012 (-100, +100) | 56,139,608 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7735223 | tandem duplication | SAMN00801027 | Sequencing | Paired-end mapping | 12,816 |
| essv7735686 | tandem duplication | SAMN00801684 | Sequencing | Paired-end mapping | 16,980 |
| essv7736920 | tandem duplication | SAMN00800266 | Sequencing | Paired-end mapping | 11,909 |
| essv7738793 | tandem duplication | SAMN00001556 | Sequencing | Paired-end mapping | 17,127 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7735223 | Remapped | Perfect | NC_000010.11:g.(54 686147_54686347)_( 54709742_54709942) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,686,147 | 54,686,347 | 54,709,742 | 54,709,942 |
| essv7735686 | Remapped | Perfect | NC_000010.11:g.(54 686147_54686347)_( 54709742_54709942) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,686,147 | 54,686,347 | 54,709,742 | 54,709,942 |
| essv7736920 | Remapped | Perfect | NC_000010.11:g.(54 686147_54686347)_( 54709742_54709942) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,686,147 | 54,686,347 | 54,709,742 | 54,709,942 |
| essv7738793 | Remapped | Perfect | NC_000010.11:g.(54 686147_54686347)_( 54709742_54709942) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,686,147 | 54,686,347 | 54,709,742 | 54,709,942 |
| essv7735223 | Remapped | Perfect | NC_000010.10:g.(56 445907_56446107)_( 56469502_56469702) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,445,907 | 56,446,107 | 56,469,502 | 56,469,702 |
| essv7735686 | Remapped | Perfect | NC_000010.10:g.(56 445907_56446107)_( 56469502_56469702) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,445,907 | 56,446,107 | 56,469,502 | 56,469,702 |
| essv7736920 | Remapped | Perfect | NC_000010.10:g.(56 445907_56446107)_( 56469502_56469702) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,445,907 | 56,446,107 | 56,469,502 | 56,469,702 |
| essv7738793 | Remapped | Perfect | NC_000010.10:g.(56 445907_56446107)_( 56469502_56469702) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,445,907 | 56,446,107 | 56,469,502 | 56,469,702 |
| essv7735223 | Submitted genomic | NC_000010.9:g.(561 15913_56116113)_(5 6139508_56139708)d up | NCBI36 (hg18) | NC_000010.9 | Chr10 | 56,115,913 | 56,116,113 | 56,139,508 | 56,139,708 | ||
| essv7735686 | Submitted genomic | NC_000010.9:g.(561 15913_56116113)_(5 6139508_56139708)d up | NCBI36 (hg18) | NC_000010.9 | Chr10 | 56,115,913 | 56,116,113 | 56,139,508 | 56,139,708 | ||
| essv7736920 | Submitted genomic | NC_000010.9:g.(561 15913_56116113)_(5 6139508_56139708)d up | NCBI36 (hg18) | NC_000010.9 | Chr10 | 56,115,913 | 56,116,113 | 56,139,508 | 56,139,708 | ||
| essv7738793 | Submitted genomic | NC_000010.9:g.(561 15913_56116113)_(5 6139508_56139708)d up | NCBI36 (hg18) | NC_000010.9 | Chr10 | 56,115,913 | 56,116,113 | 56,139,508 | 56,139,708 |