esv3622068
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,711
- 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: 312 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 233 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3622068 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| esv3622068 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv13664143 | deletion | SAMN00006394 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,847 |
| essv13664144 | deletion | SAMN00006400 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,782 |
| essv13664145 | deletion | SAMN00006535 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,682 |
| essv13664146 | deletion | SAMN00009128 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,953 |
| essv13664147 | deletion | SAMN00014378 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,180 |
| essv13664148 | deletion | SAMN00014422 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,642 |
| essv13664149 | deletion | SAMN01090931 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,913 |
| essv13664150 | deletion | SAMN01090957 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,594 |
| essv13664151 | deletion | SAMN01090960 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,611 |
| essv13664152 | deletion | SAMN01096697 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,681 |
| essv13664153 | deletion | SAMN00800835 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,553 |
| essv13664154 | deletion | SAMN00000391 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,876 |
| essv13664155 | deletion | SAMN00001290 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,785 |
| essv13664156 | deletion | SAMN00001314 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,873 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv13664143 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv13664144 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv13664145 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv13664146 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv13664147 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv13664148 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv13664149 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv13664150 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv13664151 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv13664152 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv13664153 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv13664154 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv13664155 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv13664156 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv13664143 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv13664144 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv13664145 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv13664146 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv13664147 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv13664148 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv13664149 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv13664150 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv13664151 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv13664152 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv13664153 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv13664154 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv13664155 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv13664156 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) |