esv3635879
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:31
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20,063
- 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: 1395 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1395 SVs from 82 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3635879 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
esv3635879 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv15182728 | copy number loss | SAMN00006341 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,683 |
essv15182729 | copy number loss | SAMN00009163 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,929 |
essv15182730 | copy number loss | SAMN00014429 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,569 |
essv15182731 | copy number loss | SAMN00779966 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,189 |
essv15182732 | copy number loss | SAMN01036816 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,086 |
essv15182733 | copy number loss | SAMN00000419 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,622 |
essv15182734 | copy number loss | SAMN00001634 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,781 |
essv15182735 | copy number loss | SAMN00001688 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,391 |
essv15182736 | copy number loss | SAMN00001694 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,488 |
essv15182737 | copy number loss | SAMN00001117 | Sequencing | Read depth and paired-end mapping | Heterozygous | 4,071 |
essv15182738 | copy number loss | SAMN00007797 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,620 |
essv15182739 | copy number loss | SAMN00007801 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,595 |
essv15182740 | copy number loss | SAMN00007953 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,763 |
essv15182741 | copy number gain | SAMN00016966 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,448 |
essv15182742 | copy number gain | SAMN00006362 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,917 |
essv15182743 | copy number gain | SAMN00006534 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,800 |
essv15182744 | copy number gain | SAMN00009130 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,749 |
essv15182745 | copy number gain | SAMN00249880 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,835 |
essv15182746 | copy number gain | SAMN00262981 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,961 |
essv15182747 | copy number gain | SAMN00630225 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,102 |
essv15182748 | copy number gain | SAMN01036713 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,109 |
essv15182749 | copy number gain | SAMN01036728 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,564 |
essv15182750 | copy number gain | SAMN01090776 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,137 |
essv15182751 | copy number gain | SAMN01761307 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,217 |
essv15182752 | copy number gain | SAMN01090769 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,975 |
essv15182753 | copy number gain | SAMN01096724 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,661 |
essv15182754 | copy number gain | SAMN01761564 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,268 |
essv15182755 | copy number gain | SAMN00800945 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,595 |
essv15182756 | copy number gain | SAMN00000485 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,624 |
essv15182757 | copy number gain | SAMN00000566 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,413 |
essv15182758 | copy number gain | SAMN00001687 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,530 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv15182728 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182729 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182730 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182731 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182732 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182733 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182734 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182735 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182736 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182737 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182738 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182739 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182740 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182741 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182742 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182743 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182744 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182745 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182746 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182747 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182748 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182749 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182750 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182751 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182752 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182753 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182754 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182755 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182756 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182757 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182758 | Remapped | Perfect | NC_000015.10:g.242 94482_24314544dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,294,482 | 24,314,544 |
essv15182728 | Submitted genomic | NC_000015.9:g.2453 9629_24559691del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182729 | Submitted genomic | NC_000015.9:g.2453 9629_24559691del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182730 | Submitted genomic | NC_000015.9:g.2453 9629_24559691del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182731 | Submitted genomic | NC_000015.9:g.2453 9629_24559691del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182732 | Submitted genomic | NC_000015.9:g.2453 9629_24559691del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182733 | Submitted genomic | NC_000015.9:g.2453 9629_24559691del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182734 | Submitted genomic | NC_000015.9:g.2453 9629_24559691del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182735 | Submitted genomic | NC_000015.9:g.2453 9629_24559691del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182736 | Submitted genomic | NC_000015.9:g.2453 9629_24559691del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182737 | Submitted genomic | NC_000015.9:g.2453 9629_24559691del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182738 | Submitted genomic | NC_000015.9:g.2453 9629_24559691del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182739 | Submitted genomic | NC_000015.9:g.2453 9629_24559691del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182740 | Submitted genomic | NC_000015.9:g.2453 9629_24559691del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182741 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182742 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182743 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182744 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182745 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182746 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182747 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182748 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182749 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182750 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182751 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182752 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182753 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182754 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182755 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182756 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182757 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 | ||
essv15182758 | Submitted genomic | NC_000015.9:g.2453 9629_24559691dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,539,629 | 24,559,691 |