esv3634349
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,917
- 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: 210 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 210 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3634349 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| esv3634349 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv15002694 | deletion | SAMN00262986 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,389 |
| essv15002695 | deletion | SAMN00630215 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,137 |
| essv15002696 | deletion | SAMN00630237 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,421 |
| essv15002697 | deletion | SAMN00779946 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,161 |
| essv15002698 | deletion | SAMN01036794 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,138 |
| essv15002699 | deletion | SAMN01090775 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,054 |
| essv15002700 | deletion | SAMN01761323 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,121 |
| essv15002701 | deletion | SAMN01761334 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,513 |
| essv15002702 | deletion | SAMN00001628 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,686 |
| essv15002703 | deletion | SAMN00001023 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,376 |
| essv15002704 | deletion | SAMN00001629 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,357 |
| essv15002705 | deletion | SAMN00000479 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,240 |
| essv15002706 | deletion | SAMN00000483 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,460 |
| essv15002707 | deletion | SAMN00000557 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,838 |
| essv15002708 | deletion | SAMN00000564 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,805 |
| essv15002709 | deletion | SAMN00001686 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,632 |
| essv15002710 | deletion | SAMN00001691 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,479 |
| essv15002711 | deletion | SAMN00001120 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,087 |
| essv15002712 | deletion | SAMN00001123 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,160 |
| essv15002713 | deletion | SAMN00001193 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,046 |
| essv15002714 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv15002694 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002695 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002696 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002697 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002698 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002699 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002700 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002701 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002702 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002703 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002704 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002705 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002706 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002707 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002708 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002709 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002710 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002711 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002712 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002713 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002714 | Remapped | Perfect | NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,090 (-1000, +500) | 45,466,006 (-500, +1000) |
| essv15002694 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002695 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002696 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002697 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002698 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002699 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002700 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002701 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002702 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002703 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002704 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002705 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002706 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002707 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002708 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002709 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002710 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002711 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002712 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002713 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) | ||
| essv15002714 | Submitted genomic | NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,921,293 (-1000, +500) | 45,935,209 (-500, +1000) |