esv3302773
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,473
- 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: 272 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 272 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302773 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 30,283,108 (-100, +100) | 30,291,580 (-100, +100) |
| esv3302773 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 30,301,225 (-100, +100) | 30,309,697 (-100, +100) |
| esv3302773 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 30,211,146 (-100, +100) | 30,219,618 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7733074 | tandem duplication | SAMN00001580 | Sequencing | Paired-end mapping | 12,837 |
| essv7733652 | tandem duplication | SAMN00001592 | Sequencing | Paired-end mapping | 12,716 |
| essv7736054 | tandem duplication | SAMN00001663 | Sequencing | Paired-end mapping | 12,931 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7733074 | Remapped | Perfect | NC_000023.11:g.(30 283009_30283209)_( 30291480_30291680) dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,283,009 | 30,283,209 | 30,291,480 | 30,291,680 |
| essv7733652 | Remapped | Perfect | NC_000023.11:g.(30 283009_30283209)_( 30291480_30291680) dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,283,009 | 30,283,209 | 30,291,480 | 30,291,680 |
| essv7736054 | Remapped | Perfect | NC_000023.11:g.(30 283009_30283209)_( 30291480_30291680) dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,283,009 | 30,283,209 | 30,291,480 | 30,291,680 |
| essv7733074 | Remapped | Perfect | NC_000023.10:g.(30 301126_30301326)_( 30309597_30309797) dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,301,126 | 30,301,326 | 30,309,597 | 30,309,797 |
| essv7733652 | Remapped | Perfect | NC_000023.10:g.(30 301126_30301326)_( 30309597_30309797) dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,301,126 | 30,301,326 | 30,309,597 | 30,309,797 |
| essv7736054 | Remapped | Perfect | NC_000023.10:g.(30 301126_30301326)_( 30309597_30309797) dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,301,126 | 30,301,326 | 30,309,597 | 30,309,797 |
| essv7733074 | Submitted genomic | NC_000023.9:g.(302 11047_30211247)_(3 0219518_30219718)d up | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,211,047 | 30,211,247 | 30,219,518 | 30,219,718 | ||
| essv7733652 | Submitted genomic | NC_000023.9:g.(302 11047_30211247)_(3 0219518_30219718)d up | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,211,047 | 30,211,247 | 30,219,518 | 30,219,718 | ||
| essv7736054 | Submitted genomic | NC_000023.9:g.(302 11047_30211247)_(3 0219518_30219718)d up | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,211,047 | 30,211,247 | 30,219,518 | 30,219,718 |