esv3646735
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:mobile element insertion
- 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: 261 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 261 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 |
---|---|---|---|---|---|---|---|---|---|
esv3646735 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
esv3646735 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv16299969 | line1 insertion | SAMN00014342 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,805 |
essv16299970 | line1 insertion | SAMN00779930 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,244 |
essv16299971 | line1 insertion | SAMN00779933 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,201 |
essv16299972 | line1 insertion | SAMN00779954 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,099 |
essv16299973 | line1 insertion | SAMN00779975 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,186 |
essv16299974 | line1 insertion | SAMN01761210 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,236 |
essv16299975 | line1 insertion | SAMN01036721 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,162 |
essv16299976 | line1 insertion | SAMN01761219 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,298 |
essv16299977 | line1 insertion | SAMN01761235 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,251 |
essv16299978 | line1 insertion | SAMN01090843 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,001 |
essv16299979 | line1 insertion | SAMN01761335 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,544 |
essv16299980 | line1 insertion | SAMN00001147 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,043 |
essv16299981 | line1 insertion | SAMN00001156 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,984 |
essv16299982 | line1 insertion | SAMN00001162 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,775 |
essv16299983 | line1 insertion | SAMN00007806 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,302 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv16299969 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299970 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299971 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299972 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299973 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299974 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299975 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299976 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299977 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299978 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299979 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299980 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299981 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299982 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299983 | Remapped | Perfect | NC_000021.9:g.2645 5277_26455278ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,455,277 | 26,455,277 |
essv16299969 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 | ||
essv16299970 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 | ||
essv16299971 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 | ||
essv16299972 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 | ||
essv16299973 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 | ||
essv16299974 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 | ||
essv16299975 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 | ||
essv16299976 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 | ||
essv16299977 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 | ||
essv16299978 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 | ||
essv16299979 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 | ||
essv16299980 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 | ||
essv16299981 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 | ||
essv16299982 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 | ||
essv16299983 | Submitted genomic | NC_000021.8:g.2782 7596_27827597ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,827,596 | 27,827,596 |