esv3619019
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:33
- Validation:Not tested
- Clinical Assertions: No
- Region Size:102,551
- 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: 512 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 512 SVs from 63 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3619019 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
esv3619019 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv13351512 | inversion | SAMN00004629 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,200 |
essv13351513 | inversion | SAMN00004638 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,504 |
essv13351514 | inversion | SAMN00004656 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,595 |
essv13351515 | inversion | SAMN00006349 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,741 |
essv13351516 | inversion | SAMN00006350 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,652 |
essv13351517 | inversion | SAMN00006390 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,374 |
essv13351518 | inversion | SAMN00006398 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,410 |
essv13351519 | inversion | SAMN00006419 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,762 |
essv13351520 | inversion | SAMN00006423 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,729 |
essv13351521 | inversion | SAMN00006428 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,754 |
essv13351522 | inversion | SAMN00006596 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,732 |
essv13351523 | inversion | SAMN01091108 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,887 |
essv13351524 | inversion | SAMN00014330 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,804 |
essv13351525 | inversion | SAMN00014332 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,788 |
essv13351526 | inversion | SAMN01091127 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,300 |
essv13351527 | inversion | SAMN00014359 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,859 |
essv13351528 | inversion | SAMN00014386 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,772 |
essv13351529 | inversion | SAMN00016848 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,625 |
essv13351530 | inversion | SAMN01761627 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,762 |
essv13351531 | inversion | SAMN00249874 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,855 |
essv13351532 | inversion | SAMN00255137 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,826 |
essv13351533 | inversion | SAMN00619035 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,693 |
essv13351534 | inversion | SAMN01761581 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,794 |
essv13351535 | inversion | SAMN00800835 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,553 |
essv13351536 | inversion | SAMN00801126 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,868 |
essv13351537 | inversion | SAMN00001546 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,955 |
essv13351538 | inversion | SAMN00000389 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,773 |
essv13351539 | inversion | SAMN00801372 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,783 |
essv13351540 | inversion | SAMN00801485 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,720 |
essv13351541 | inversion | SAMN00801509 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,821 |
essv13351542 | inversion | SAMN00801646 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,822 |
essv13351543 | inversion | SAMN00801650 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,716 |
essv13351544 | inversion | SAMN00001040 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,220 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv13351512 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351513 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351514 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351515 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351516 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351517 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351518 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351519 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351520 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351521 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351522 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351523 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351524 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351525 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351526 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351527 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351528 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351529 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351530 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351531 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351532 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351533 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351534 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351535 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351536 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351537 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351538 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351539 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351540 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351541 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351542 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351543 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351544 | Remapped | Perfect | NC_000008.11:g.(13 9498031_139498313) _(139600581_139600 863)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 139,498,172 (-141, +141) | 139,600,722 (-141, +141) |
essv13351512 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351513 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351514 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351515 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351516 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351517 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351518 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351519 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351520 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351521 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351522 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351523 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351524 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351525 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351526 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351527 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351528 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351529 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351530 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351531 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351532 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351533 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351534 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351535 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351536 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351537 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351538 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351539 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351540 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351541 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351542 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351543 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) | ||
essv13351544 | Submitted genomic | NC_000008.10:g.(14 0510274_140510556) _(140612824_140613 106)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 140,510,415 (-141, +141) | 140,612,965 (-141, +141) |