esv3621336
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:34
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,976
- 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: 301 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 301 SVs from 59 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3621336 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
esv3621336 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv13591836 | copy number loss | SAMN00255127 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,380 |
essv13591837 | copy number loss | SAMN00779985 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,290 |
essv13591838 | copy number loss | SAMN01036769 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,858 |
essv13591839 | copy number loss | SAMN01090790 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,116 |
essv13591840 | copy number loss | SAMN00001040 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,220 |
essv13591841 | copy number loss | SAMN00001041 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,175 |
essv13591842 | copy number loss | SAMN00001055 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,911 |
essv13591843 | copy number loss | SAMN00001059 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,175 |
essv13591844 | copy number loss | SAMN00001676 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,811 |
essv13591845 | copy number loss | SAMN00001098 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,867 |
essv13591846 | copy number loss | SAMN00001110 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,124 |
essv13591847 | copy number loss | SAMN00001113 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,558 |
essv13591848 | copy number loss | SAMN00001127 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,174 |
essv13591849 | copy number loss | SAMN00001135 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,038 |
essv13591850 | copy number loss | SAMN00001137 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,195 |
essv13591851 | copy number loss | SAMN00001140 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,101 |
essv13591852 | copy number loss | SAMN00001147 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,043 |
essv13591853 | copy number loss | SAMN00001162 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,775 |
essv13591854 | copy number loss | SAMN00001175 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,829 |
essv13591855 | copy number loss | SAMN00001184 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,973 |
essv13591856 | copy number loss | SAMN00001193 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,046 |
essv13591857 | copy number loss | SAMN00007810 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,058 |
essv13591858 | copy number gain | SAMN00009097 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,768 |
essv13591859 | copy number gain | SAMN00009103 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,711 |
essv13591860 | copy number gain | SAMN00006390 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,374 |
essv13591861 | copy number gain | SAMN00006393 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,531 |
essv13591862 | copy number gain | SAMN00009225 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,491 |
essv13591863 | copy number gain | SAMN00249744 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,620 |
essv13591864 | copy number gain | SAMN01761244 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,199 |
essv13591865 | copy number gain | SAMN00000461 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,585 |
essv13591866 | copy number gain | SAMN00000464 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,512 |
essv13591867 | copy number gain | SAMN00000473 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,562 |
essv13591868 | copy number gain | SAMN00000490 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,423 |
essv13591869 | copy number gain | SAMN00000557 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,838 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv13591836 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591837 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591838 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591839 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591840 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591841 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591842 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591843 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591844 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591845 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591846 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591847 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591848 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591849 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591850 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591851 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591852 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591853 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591854 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591855 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591856 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591857 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591858 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591859 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591860 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591861 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591862 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591863 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591864 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591865 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591866 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591867 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591868 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591869 | Remapped | Perfect | NC_000009.12:g.104 604904_104617879du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,604,904 | 104,617,879 |
essv13591836 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591837 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591838 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591839 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591840 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591841 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591842 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591843 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591844 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591845 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591846 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591847 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591848 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591849 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591850 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591851 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591852 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591853 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591854 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591855 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591856 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591857 | Submitted genomic | NC_000009.11:g.107 367185_107380160de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591858 | Submitted genomic | NC_000009.11:g.107 367185_107380160du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591859 | Submitted genomic | NC_000009.11:g.107 367185_107380160du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591860 | Submitted genomic | NC_000009.11:g.107 367185_107380160du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591861 | Submitted genomic | NC_000009.11:g.107 367185_107380160du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591862 | Submitted genomic | NC_000009.11:g.107 367185_107380160du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591863 | Submitted genomic | NC_000009.11:g.107 367185_107380160du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591864 | Submitted genomic | NC_000009.11:g.107 367185_107380160du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591865 | Submitted genomic | NC_000009.11:g.107 367185_107380160du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591866 | Submitted genomic | NC_000009.11:g.107 367185_107380160du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591867 | Submitted genomic | NC_000009.11:g.107 367185_107380160du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591868 | Submitted genomic | NC_000009.11:g.107 367185_107380160du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 | ||
essv13591869 | Submitted genomic | NC_000009.11:g.107 367185_107380160du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,185 | 107,380,160 |