esv3616584
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:29
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,712
- 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: 253 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 253 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3616584 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| esv3616584 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv13132631 | inversion | SAMN00004644 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,699 |
| essv13132632 | inversion | SAMN00004664 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,739 |
| essv13132633 | inversion | SAMN00006350 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,652 |
| essv13132634 | inversion | SAMN00004682 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,758 |
| essv13132635 | inversion | SAMN00009097 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,768 |
| essv13132636 | inversion | SAMN00006393 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,531 |
| essv13132637 | inversion | SAMN00006396 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,475 |
| essv13132638 | inversion | SAMN00006409 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,477 |
| essv13132639 | inversion | SAMN00006414 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,676 |
| essv13132640 | inversion | SAMN00006599 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,772 |
| essv13132641 | inversion | SAMN00009145 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,935 |
| essv13132642 | inversion | SAMN01091131 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,172 |
| essv13132643 | inversion | SAMN00014359 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,859 |
| essv13132644 | inversion | SAMN00014392 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,812 |
| essv13132645 | inversion | SAMN01761424 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,168 |
| essv13132646 | inversion | SAMN00249947 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,822 |
| essv13132647 | inversion | SAMN00262981 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,961 |
| essv13132648 | inversion | SAMN01091048 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,346 |
| essv13132649 | inversion | SAMN00780005 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,744 |
| essv13132650 | inversion | SAMN01096683 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,755 |
| essv13132651 | inversion | SAMN01096793 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,614 |
| essv13132652 | inversion | SAMN00800837 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,742 |
| essv13132653 | inversion | SAMN00800857 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,736 |
| essv13132654 | inversion | SAMN00800945 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,595 |
| essv13132655 | inversion | SAMN00801126 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,868 |
| essv13132656 | inversion | SAMN00801237 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,665 |
| essv13132657 | inversion | SAMN00001234 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,744 |
| essv13132658 | inversion | SAMN00001244 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,869 |
| essv13132659 | inversion | SAMN00001263 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,919 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv13132631 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132632 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132633 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132634 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132635 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132636 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132637 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132638 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132639 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132640 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132641 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132642 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132643 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132644 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132645 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132646 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132647 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132648 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132649 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132650 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132651 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132652 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132653 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132654 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132655 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132656 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132657 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132658 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132659 | Remapped | Perfect | NC_000008.11:g.(20 919115_20919315)_( 20920826_20921026) inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 20,919,215 (-100, +100) | 20,920,926 (-100, +100) |
| essv13132631 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132632 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132633 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132634 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132635 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132636 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132637 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132638 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132639 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132640 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132641 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132642 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132643 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132644 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132645 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132646 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132647 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132648 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132649 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132650 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132651 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132652 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132653 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132654 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132655 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132656 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132657 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132658 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) | ||
| essv13132659 | Submitted genomic | NC_000008.10:g.(20 776626_20776826)_( 20778337_20778537) inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 20,776,726 (-100, +100) | 20,778,437 (-100, +100) |