esv3610537
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,854
- 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: 171 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 171 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3610537 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| esv3610537 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv12519948 | inversion | SAMN00004651 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,831 |
| essv12519949 | inversion | SAMN00004668 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,231 |
| essv12519950 | inversion | SAMN00009254 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,508 |
| essv12519951 | inversion | SAMN00014360 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,640 |
| essv12519952 | inversion | SAMN00014408 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,466 |
| essv12519953 | inversion | SAMN00249862 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,781 |
| essv12519954 | inversion | SAMN01761367 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,896 |
| essv12519955 | inversion | SAMN01036734 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,930 |
| essv12519956 | inversion | SAMN01090913 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,491 |
| essv12519957 | inversion | SAMN01091004 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,722 |
| essv12519958 | inversion | SAMN00801434 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,890 |
| essv12519959 | inversion | SAMN00007731 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,751 |
| essv12519960 | inversion | SAMN00007791 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,483 |
| essv12519961 | inversion | SAMN00001330 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,771 |
| essv12519962 | inversion | SAMN00004492 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,718 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv12519948 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519949 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519950 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519951 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519952 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519953 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519954 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519955 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519956 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519957 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519958 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519959 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519960 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519961 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519962 | Remapped | Perfect | NC_000006.12:g.(11 9219097_119219383) _(119220950_119221 236)inv | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 119,219,240 (-143, +143) | 119,221,093 (-143, +143) |
| essv12519948 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) | ||
| essv12519949 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) | ||
| essv12519950 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) | ||
| essv12519951 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) | ||
| essv12519952 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) | ||
| essv12519953 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) | ||
| essv12519954 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) | ||
| essv12519955 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) | ||
| essv12519956 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) | ||
| essv12519957 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) | ||
| essv12519958 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) | ||
| essv12519959 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) | ||
| essv12519960 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) | ||
| essv12519961 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) | ||
| essv12519962 | Submitted genomic | NC_000006.11:g.(11 9540262_119540548) _(119542115_119542 401)inv | GRCh37 (hg19) | NC_000006.11 | Chr6 | 119,540,405 (-143, +143) | 119,542,258 (-143, +143) |