esv3869117
- 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:31
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,696
- 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: 236 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 47 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3869117 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
esv3869117 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv22988428 | deletion | HG01095 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,306 |
essv22988429 | deletion | HG01250 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,105 |
essv22988430 | deletion | HG01377 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,578 |
essv22988431 | deletion | HG01965 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,114 |
essv22988432 | deletion | HG02439 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,803 |
essv22988433 | deletion | HG02508 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,622 |
essv22988434 | deletion | HG02623 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,072 |
essv22988435 | deletion | HG02769 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,837 |
essv22988436 | deletion | HG02798 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,098 |
essv22988437 | deletion | HG02799 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,947 |
essv22988438 | deletion | HG02891 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,631 |
essv22988439 | deletion | HG02976 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,647 |
essv22988440 | deletion | HG03027 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,932 |
essv22988441 | deletion | HG03052 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,010 |
essv22988442 | deletion | HG03100 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,044 |
essv22988443 | deletion | HG03112 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,190 |
essv22988444 | deletion | HG03133 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,119 |
essv22988445 | deletion | HG03168 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,002 |
essv22988446 | deletion | HG03175 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,240 |
essv22988447 | deletion | HG03224 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,231 |
essv22988448 | deletion | HG03297 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,945 |
essv22988449 | deletion | HG03517 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,434 |
essv22988450 | deletion | HG03547 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,826 |
essv22988451 | deletion | NA19028 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,879 |
essv22988452 | deletion | NA19114 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,027 |
essv22988453 | deletion | NA19141 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,870 |
essv22988454 | deletion | NA19248 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,978 |
essv22988455 | deletion | NA19324 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,241 |
essv22988456 | deletion | NA19466 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,912 |
essv22988457 | deletion | NA19982 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,130 |
essv22988458 | deletion | NA20342 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,280 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv22988428 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988429 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988430 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988431 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988432 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988433 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988434 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988435 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988436 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988437 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988438 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988439 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988440 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988441 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988442 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988443 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988444 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988445 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988446 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988447 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988448 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988449 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988450 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988451 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988452 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988453 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988454 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988455 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988456 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988457 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988458 | Remapped | Perfect | NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,150,511 (-1000, +500) | 122,166,206 (-500, +1000) |
essv22988428 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988429 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988430 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988431 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988432 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988433 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988434 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988435 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988436 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988437 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988438 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988439 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988440 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988441 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988442 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988443 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988444 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988445 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988446 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988447 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988448 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988449 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988450 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988451 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988452 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988453 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988454 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988455 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988456 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988457 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) | ||
essv22988458 | Submitted genomic | NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,635,058 (-1000, +500) | 122,650,753 (-500, +1000) |