esv3890414
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,568
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 526 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 522 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3890414 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| esv3890414 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25719435 | copy number loss | HG00326 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,173 |
| essv25719436 | copy number loss | HG01958 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,843 |
| essv25719437 | copy number loss | HG02461 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,157 |
| essv25719438 | copy number loss | HG02703 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,058 |
| essv25719439 | copy number variation | HG03028 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Homozygous | 4,034 |
| essv25719440 | copy number loss | HG03114 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,930 |
| essv25719441 | copy number loss | HG03162 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,760 |
| essv25719442 | copy number loss | NA18910 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,161 |
| essv25719443 | copy number loss | NA19114 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,027 |
| essv25719444 | copy number loss | NA19141 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,870 |
| essv25719445 | copy number loss | NA19312 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,772 |
| essv25719446 | copy number loss | NA19446 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,977 |
| essv25719447 | copy number loss | NA19452 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,668 |
| essv25719448 | copy number loss | NA19455 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,942 |
| essv25719449 | copy number gain | HG01850 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,368 |
| essv25719450 | copy number gain | HG02700 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,426 |
| essv25719451 | copy number gain | NA19379 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,762 |
| essv25719452 | copy number gain | NA19431 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,311 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25719435 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719436 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719437 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719438 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719439 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 | |
| essv25719440 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719441 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719442 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719443 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719444 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719445 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719446 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719447 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719448 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719449 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882du p | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719450 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882du p | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719451 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882du p | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719452 | Remapped | Perfect | NC_000023.11:g.152 935315_152938882du p | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,935,315 | 152,938,882 |
| essv25719435 | Submitted genomic | NC_000023.10:g.152 103859_152107426de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719436 | Submitted genomic | NC_000023.10:g.152 103859_152107426de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719437 | Submitted genomic | NC_000023.10:g.152 103859_152107426de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719438 | Submitted genomic | NC_000023.10:g.152 103859_152107426de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719439 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | |||
| essv25719440 | Submitted genomic | NC_000023.10:g.152 103859_152107426de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719441 | Submitted genomic | NC_000023.10:g.152 103859_152107426de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719442 | Submitted genomic | NC_000023.10:g.152 103859_152107426de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719443 | Submitted genomic | NC_000023.10:g.152 103859_152107426de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719444 | Submitted genomic | NC_000023.10:g.152 103859_152107426de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719445 | Submitted genomic | NC_000023.10:g.152 103859_152107426de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719446 | Submitted genomic | NC_000023.10:g.152 103859_152107426de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719447 | Submitted genomic | NC_000023.10:g.152 103859_152107426de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719448 | Submitted genomic | NC_000023.10:g.152 103859_152107426de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719449 | Submitted genomic | NC_000023.10:g.152 103859_152107426du p | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719450 | Submitted genomic | NC_000023.10:g.152 103859_152107426du p | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719451 | Submitted genomic | NC_000023.10:g.152 103859_152107426du p | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 | ||
| essv25719452 | Submitted genomic | NC_000023.10:g.152 103859_152107426du p | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,103,859 | 152,107,426 |