esv3817471
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:delins
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:15
- 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: 428 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 429 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3817471 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| esv3817471 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16871137 | delins | SAMN00009119 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,822 |
| essv16871138 | delins | SAMN01091052 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,080 |
| essv16871139 | delins | SAMN00779952 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,140 |
| essv16871140 | delins | SAMN00779982 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,199 |
| essv16871141 | delins | SAMN01036728 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,564 |
| essv16871142 | delins | SAMN01036782 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,182 |
| essv16871143 | delins | SAMN01090841 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,952 |
| essv16871144 | delins | SAMN01761248 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,116 |
| essv16871145 | delins | SAMN01761353 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,438 |
| essv16871146 | delins | SAMN01090834 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,887 |
| essv16871147 | delins | SAMN00001665 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,380 |
| essv16871148 | delins | SAMN00001671 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,320 |
| essv16871149 | delins | SAMN00001680 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,502 |
| essv16871150 | delins | SAMN00001173 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,262 |
| essv16871151 | delins | SAMN00001180 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,014 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16871137 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871138 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871139 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871140 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871141 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871142 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871143 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871144 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871145 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871146 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871147 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871148 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871149 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871150 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871151 | Remapped | Perfect | NC_000023.11:g.258 77866delins96 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 25,877,866 | 25,877,866 |
| essv16871137 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 | ||
| essv16871138 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 | ||
| essv16871139 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 | ||
| essv16871140 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 | ||
| essv16871141 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 | ||
| essv16871142 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 | ||
| essv16871143 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 | ||
| essv16871144 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 | ||
| essv16871145 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 | ||
| essv16871146 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 | ||
| essv16871147 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 | ||
| essv16871148 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 | ||
| essv16871149 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 | ||
| essv16871150 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 | ||
| essv16871151 | Submitted genomic | NC_000023.10:g.258 95983delinsCTAAATC TTAAATTGTCTGAGTTGG TACTCACAGAAAAGTAAT GCTAACTTTCCTAAATCT TAAATTGTCTGAGTTGGT ACTCACAGAAAAGTAAT | GRCh37 (hg19) | NC_000023.10 | ChrX | 25,895,983 | 25,895,983 |