esv3606542
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:25
- Validation:Not tested
- Clinical Assertions: No
- Region Size:22,366
- 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: 278 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3606542 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| esv3606542 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv12039105 | deletion | SAMN00249786 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,377 |
| essv12039106 | deletion | SAMN01090936 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,688 |
| essv12039107 | deletion | SAMN01090970 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,778 |
| essv12039108 | deletion | SAMN01096729 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,586 |
| essv12039109 | deletion | SAMN01761401 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,199 |
| essv12039110 | deletion | SAMN01096785 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,658 |
| essv12039111 | deletion | SAMN01090943 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,749 |
| essv12039112 | deletion | SAMN01090948 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,755 |
| essv12039113 | deletion | SAMN01090958 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,543 |
| essv12039114 | deletion | SAMN01761561 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,260 |
| essv12039115 | deletion | SAMN01090984 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,770 |
| essv12039116 | deletion | SAMN01096795 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,562 |
| essv12039117 | deletion | SAMN01091035 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,577 |
| essv12039118 | deletion | SAMN01090993 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,820 |
| essv12039119 | deletion | SAMN01091041 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,568 |
| essv12039120 | deletion | SAMN01761573 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,198 |
| essv12039121 | deletion | SAMN01761576 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,205 |
| essv12039122 | deletion | SAMN01096805 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,600 |
| essv12039123 | deletion | SAMN00001035 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,108 |
| essv12039124 | deletion | SAMN00007883 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,933 |
| essv12039125 | deletion | SAMN00007892 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,830 |
| essv12039126 | deletion | SAMN00007894 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,864 |
| essv12039127 | deletion | SAMN00007906 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,724 |
| essv12039128 | deletion | SAMN00007910 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,763 |
| essv12039129 | deletion | SAMN00007924 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,713 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv12039105 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039106 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039107 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039108 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039109 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039110 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039111 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039112 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039113 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039114 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039115 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039116 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039117 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039118 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039119 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039120 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039121 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039122 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039123 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039124 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039125 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039126 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039127 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039128 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039129 | Remapped | Perfect | NC_000005.10:g.(12 0855722_120855972) _(120878337_120878 547)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,855,972 (-250, +0) | 120,878,337 (-0, +210) |
| essv12039105 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039106 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039107 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039108 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039109 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039110 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039111 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039112 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039113 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039114 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039115 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039116 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039117 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039118 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039119 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039120 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039121 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039122 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039123 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039124 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039125 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039126 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039127 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039128 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) | ||
| essv12039129 | Submitted genomic | NC_000005.9:g.(120 191417_120191667)_ (120214032_1202142 42)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,191,667 (-250, +0) | 120,214,032 (-0, +210) |