esv3647719
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:28
- 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: 112 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 26 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3647719 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
esv3647719 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv16421179 | sva insertion | SAMN00262980 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,988 |
essv16421180 | sva insertion | SAMN00630220 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,027 |
essv16421181 | sva insertion | SAMN01761208 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,316 |
essv16421182 | sva insertion | SAMN00779942 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,199 |
essv16421183 | sva insertion | SAMN00779954 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,099 |
essv16421184 | sva insertion | SAMN01090760 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,134 |
essv16421185 | sva insertion | SAMN01761225 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,305 |
essv16421186 | sva insertion | SAMN01036752 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,109 |
essv16421187 | sva insertion | SAMN01761229 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,411 |
essv16421188 | sva insertion | SAMN01090797 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,871 |
essv16421189 | sva insertion | SAMN01761239 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,286 |
essv16421190 | sva insertion | SAMN01090773 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,777 |
essv16421191 | sva insertion | SAMN01036818 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,167 |
essv16421192 | sva insertion | SAMN01761295 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,217 |
essv16421193 | sva insertion | SAMN01090882 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,051 |
essv16421194 | sva insertion | SAMN01090754 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,921 |
essv16421195 | sva insertion | SAMN01090846 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,080 |
essv16421196 | sva insertion | SAMN01090807 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,066 |
essv16421197 | sva insertion | SAMN01090793 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,951 |
essv16421198 | sva insertion | SAMN01761264 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,514 |
essv16421199 | sva insertion | SAMN00001673 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,256 |
essv16421200 | sva insertion | SAMN00001687 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,530 |
essv16421201 | sva insertion | SAMN00001339 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,222 |
essv16421202 | sva insertion | SAMN00000574 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,099 |
essv16421203 | sva insertion | SAMN00000575 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,345 |
essv16421204 | sva insertion | SAMN00001115 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,431 |
essv16421205 | sva insertion | SAMN00001186 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,005 |
essv16421206 | sva insertion | SAMN00007735 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,097 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv16421179 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421180 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421181 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421182 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421183 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421184 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421185 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421186 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421187 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421188 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421189 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421190 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421191 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421192 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421193 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421194 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421195 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421196 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421197 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421198 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421199 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421200 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421201 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421202 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421203 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421204 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421205 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421206 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
essv16421179 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421180 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421181 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421182 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421183 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421184 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421185 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421186 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421187 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421188 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421189 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421190 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421191 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421192 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421193 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421194 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421195 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421196 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421197 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421198 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421199 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421200 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421201 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421202 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421203 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421204 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421205 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
essv16421206 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 |