esv3591725
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:30,393
- Publication(s):1000 Genomes Project Consortium et al. 2015
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: 192 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3591725 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| esv3591725 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv10593809 | deletion | SAMN00255122 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,934 |
| essv10593810 | deletion | SAMN00630197 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,192 |
| essv10593811 | deletion | SAMN00630239 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,626 |
| essv10593812 | deletion | SAMN01036797 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,180 |
| essv10593813 | deletion | SAMN01036801 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,103 |
| essv10593814 | deletion | SAMN01761304 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,309 |
| essv10593815 | deletion | SAMN01761316 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,322 |
| essv10593816 | deletion | SAMN01090783 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,989 |
| essv10593817 | deletion | SAMN01090791 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,952 |
| essv10593818 | deletion | SAMN00001592 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,357 |
| essv10593819 | deletion | SAMN00001624 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,405 |
| essv10593820 | deletion | SAMN00001672 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,981 |
| essv10593821 | deletion | SAMN00001680 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,502 |
| essv10593822 | deletion | SAMN00000569 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,809 |
| essv10593823 | deletion | SAMN00000572 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,155 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv10593809 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593810 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593811 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593812 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593813 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593814 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593815 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593816 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593817 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593818 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593819 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593820 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593821 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593822 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593823 | Remapped | Perfect | NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,755 (-2, +3) | 98,270,147 (-2, +3) |
| essv10593809 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) | ||
| essv10593810 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) | ||
| essv10593811 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) | ||
| essv10593812 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) | ||
| essv10593813 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) | ||
| essv10593814 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) | ||
| essv10593815 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) | ||
| essv10593816 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) | ||
| essv10593817 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) | ||
| essv10593818 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) | ||
| essv10593819 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) | ||
| essv10593820 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) | ||
| essv10593821 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) | ||
| essv10593822 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) | ||
| essv10593823 | Submitted genomic | NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,856,218 (-2, +3) | 98,886,610 (-2, +3) |