esv3625091
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:36,841
- 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: 320 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 326 SVs from 60 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3625091 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 966,063 | 1,001,637 |
| esv3625091 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 34,238 | 71,078 |
| esv3625091 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 28,806 | 64,380 |
| esv3625091 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 966,063 | 1,001,637 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv13992169 | copy number loss | SAMN00006370 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,238 |
| essv13992170 | copy number loss | SAMN00006433 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,389 |
| essv13992171 | copy number loss | SAMN00006511 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,127 |
| essv13992172 | copy number loss | SAMN00006516 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,414 |
| essv13992173 | copy number loss | SAMN00006529 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,283 |
| essv13992174 | copy number loss | SAMN00006531 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,378 |
| essv13992175 | copy number loss | SAMN00000386 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,456 |
| essv13992176 | copy number gain | SAMN00009092 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,808 |
| essv13992177 | copy number gain | SAMN01090955 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,709 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv13992169 | Remapped | Good | NT_187681.1:g.3423 8_71078del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 34,238 | 71,078 |
| essv13992170 | Remapped | Good | NT_187681.1:g.3423 8_71078del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 34,238 | 71,078 |
| essv13992171 | Remapped | Good | NT_187681.1:g.3423 8_71078del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 34,238 | 71,078 |
| essv13992172 | Remapped | Good | NT_187681.1:g.3423 8_71078del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 34,238 | 71,078 |
| essv13992173 | Remapped | Good | NT_187681.1:g.3423 8_71078del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 34,238 | 71,078 |
| essv13992174 | Remapped | Good | NT_187681.1:g.3423 8_71078del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 34,238 | 71,078 |
| essv13992175 | Remapped | Good | NT_187681.1:g.3423 8_71078del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 34,238 | 71,078 |
| essv13992176 | Remapped | Good | NT_187681.1:g.3423 8_71078dup | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 34,238 | 71,078 |
| essv13992177 | Remapped | Good | NT_187681.1:g.3423 8_71078dup | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 34,238 | 71,078 |
| essv13992169 | Remapped | Perfect | NT_187656.1:g.2880 6_64380del | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 28,806 | 64,380 |
| essv13992170 | Remapped | Perfect | NT_187656.1:g.2880 6_64380del | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 28,806 | 64,380 |
| essv13992171 | Remapped | Perfect | NT_187656.1:g.2880 6_64380del | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 28,806 | 64,380 |
| essv13992172 | Remapped | Perfect | NT_187656.1:g.2880 6_64380del | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 28,806 | 64,380 |
| essv13992173 | Remapped | Perfect | NT_187656.1:g.2880 6_64380del | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 28,806 | 64,380 |
| essv13992174 | Remapped | Perfect | NT_187656.1:g.2880 6_64380del | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 28,806 | 64,380 |
| essv13992175 | Remapped | Perfect | NT_187656.1:g.2880 6_64380del | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 28,806 | 64,380 |
| essv13992176 | Remapped | Perfect | NT_187656.1:g.2880 6_64380dup | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 28,806 | 64,380 |
| essv13992177 | Remapped | Perfect | NT_187656.1:g.2880 6_64380dup | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 28,806 | 64,380 |
| essv13992169 | Remapped | Perfect | NC_000011.10:g.966 063_1001637del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 966,063 | 1,001,637 |
| essv13992170 | Remapped | Perfect | NC_000011.10:g.966 063_1001637del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 966,063 | 1,001,637 |
| essv13992171 | Remapped | Perfect | NC_000011.10:g.966 063_1001637del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 966,063 | 1,001,637 |
| essv13992172 | Remapped | Perfect | NC_000011.10:g.966 063_1001637del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 966,063 | 1,001,637 |
| essv13992173 | Remapped | Perfect | NC_000011.10:g.966 063_1001637del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 966,063 | 1,001,637 |
| essv13992174 | Remapped | Perfect | NC_000011.10:g.966 063_1001637del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 966,063 | 1,001,637 |
| essv13992175 | Remapped | Perfect | NC_000011.10:g.966 063_1001637del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 966,063 | 1,001,637 |
| essv13992176 | Remapped | Perfect | NC_000011.10:g.966 063_1001637dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 966,063 | 1,001,637 |
| essv13992177 | Remapped | Perfect | NC_000011.10:g.966 063_1001637dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 966,063 | 1,001,637 |
| essv13992169 | Submitted genomic | NC_000011.9:g.9660 63_1001637del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 966,063 | 1,001,637 | ||
| essv13992170 | Submitted genomic | NC_000011.9:g.9660 63_1001637del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 966,063 | 1,001,637 | ||
| essv13992171 | Submitted genomic | NC_000011.9:g.9660 63_1001637del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 966,063 | 1,001,637 | ||
| essv13992172 | Submitted genomic | NC_000011.9:g.9660 63_1001637del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 966,063 | 1,001,637 | ||
| essv13992173 | Submitted genomic | NC_000011.9:g.9660 63_1001637del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 966,063 | 1,001,637 | ||
| essv13992174 | Submitted genomic | NC_000011.9:g.9660 63_1001637del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 966,063 | 1,001,637 | ||
| essv13992175 | Submitted genomic | NC_000011.9:g.9660 63_1001637del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 966,063 | 1,001,637 | ||
| essv13992176 | Submitted genomic | NC_000011.9:g.9660 63_1001637dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 966,063 | 1,001,637 | ||
| essv13992177 | Submitted genomic | NC_000011.9:g.9660 63_1001637dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 966,063 | 1,001,637 |