esv3890626
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:delins
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 157 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3890626 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| esv3890626 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25778198 | delins | SAMN00630224 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,117 |
| essv25778199 | delins | SAMN01091053 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,789 |
| essv25778200 | delins | SAMN00779943 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,267 |
| essv25778201 | delins | SAMN00779969 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,302 |
| essv25778202 | delins | SAMN01036737 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,966 |
| essv25778203 | delins | SAMN01761280 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,222 |
| essv25778204 | delins | SAMN01036806 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,195 |
| essv25778205 | delins | SAMN01090892 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,959 |
| essv25778206 | delins | SAMN01090856 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,862 |
| essv25778207 | delins | SAMN01090817 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,060 |
| essv25778208 | delins | SAMN01090823 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,198 |
| essv25778209 | delins | SAMN01090831 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,111 |
| essv25778210 | delins | SAMN00000415 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,187 |
| essv25778211 | delins | SAMN00000483 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,460 |
| essv25778212 | delins | SAMN00000547 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,222 |
| essv25778213 | delins | SAMN00001666 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,084 |
| essv25778214 | delins | SAMN00001674 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,102 |
| essv25778215 | delins | SAMN00001113 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,558 |
| essv25778216 | delins | SAMN00007864 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,390 |
| essv25778217 | delins | SAMN00006629 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,232 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25778198 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778199 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778200 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778201 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778202 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778203 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778204 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778205 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778206 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778207 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778208 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778209 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778210 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778211 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778212 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778213 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778214 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778215 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778216 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778217 | Remapped | Perfect | NC_000012.12:g.103 63096delins80 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,363,096 | 10,363,096 |
| essv25778198 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778199 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778200 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778201 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778202 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778203 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778204 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778205 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778206 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778207 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778208 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778209 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778210 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778211 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778212 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778213 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778214 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778215 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778216 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 | ||
| essv25778217 | Submitted genomic | NC_000012.11:g.105 15695delinsGTTGAAC CTCGGAAAGAGGTGAGAA ATCCCCATGAGGCGGGTT GAACCTCAGAAAGAGGTG AGGAATCCCCATGAGGGG G | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,515,695 | 10,515,695 |