esv3634346
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,712
- 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: 203 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 203 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3634346 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| esv3634346 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv15002632 | deletion | SAMN00262986 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,389 |
| essv15002633 | deletion | SAMN00630215 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,137 |
| essv15002634 | deletion | SAMN00630237 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,421 |
| essv15002635 | deletion | SAMN00779946 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,161 |
| essv15002636 | deletion | SAMN01036794 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,138 |
| essv15002637 | deletion | SAMN01090775 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,054 |
| essv15002638 | deletion | SAMN01761323 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,121 |
| essv15002639 | deletion | SAMN01761334 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,513 |
| essv15002640 | deletion | SAMN00001628 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,686 |
| essv15002641 | deletion | SAMN00001023 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,376 |
| essv15002642 | deletion | SAMN00001629 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,357 |
| essv15002643 | deletion | SAMN00000479 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,240 |
| essv15002644 | deletion | SAMN00000483 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,460 |
| essv15002645 | deletion | SAMN00000557 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,838 |
| essv15002646 | deletion | SAMN00000564 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,805 |
| essv15002647 | deletion | SAMN00001686 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,632 |
| essv15002648 | deletion | SAMN00001691 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,479 |
| essv15002649 | deletion | SAMN00001123 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,160 |
| essv15002650 | deletion | SAMN00001193 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,046 |
| essv15002651 | deletion | SAMN00007735 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,097 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv15002632 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002633 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002634 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002635 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002636 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002637 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002638 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002639 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002640 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002641 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002642 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002643 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002644 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002645 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002646 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002647 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002648 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002649 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002650 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002651 | Remapped | Perfect | NC_000014.9:g.(453 49597_45350097)_(4 5375808_45376308)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,350,097 (-500, +0) | 45,375,808 (-0, +500) |
| essv15002632 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002633 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002634 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002635 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002636 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002637 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002638 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002639 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002640 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002641 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002642 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002643 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002644 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002645 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002646 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002647 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002648 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002649 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002650 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) | ||
| essv15002651 | Submitted genomic | NC_000014.8:g.(458 18800_45819300)_(4 5845011_45845511)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,819,300 (-500, +0) | 45,845,011 (-0, +500) |