esv3645714
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:8
- 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: 141 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3645714 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 35,289,515 | 35,289,515 |
esv3645714 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 33,877,318 | 33,877,318 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv16178648 | sva insertion | SAMN00779930 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,244 |
essv16178649 | sva insertion | SAMN01036795 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,333 |
essv16178650 | sva insertion | SAMN01036801 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,103 |
essv16178651 | sva insertion | SAMN01761234 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,228 |
essv16178652 | sva insertion | SAMN01761243 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,270 |
essv16178653 | sva insertion | SAMN00000475 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,336 |
essv16178654 | sva insertion | SAMN00000477 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,404 |
essv16178655 | sva insertion | SAMN00001629 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,357 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv16178648 | Remapped | Perfect | NC_000020.11:g.352 89515_35289516ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 35,289,515 | 35,289,515 |
essv16178649 | Remapped | Perfect | NC_000020.11:g.352 89515_35289516ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 35,289,515 | 35,289,515 |
essv16178650 | Remapped | Perfect | NC_000020.11:g.352 89515_35289516ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 35,289,515 | 35,289,515 |
essv16178651 | Remapped | Perfect | NC_000020.11:g.352 89515_35289516ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 35,289,515 | 35,289,515 |
essv16178652 | Remapped | Perfect | NC_000020.11:g.352 89515_35289516ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 35,289,515 | 35,289,515 |
essv16178653 | Remapped | Perfect | NC_000020.11:g.352 89515_35289516ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 35,289,515 | 35,289,515 |
essv16178654 | Remapped | Perfect | NC_000020.11:g.352 89515_35289516ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 35,289,515 | 35,289,515 |
essv16178655 | Remapped | Perfect | NC_000020.11:g.352 89515_35289516ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 35,289,515 | 35,289,515 |
essv16178648 | Submitted genomic | NC_000020.10:g.338 77318_33877319ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 33,877,318 | 33,877,318 | ||
essv16178649 | Submitted genomic | NC_000020.10:g.338 77318_33877319ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 33,877,318 | 33,877,318 | ||
essv16178650 | Submitted genomic | NC_000020.10:g.338 77318_33877319ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 33,877,318 | 33,877,318 | ||
essv16178651 | Submitted genomic | NC_000020.10:g.338 77318_33877319ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 33,877,318 | 33,877,318 | ||
essv16178652 | Submitted genomic | NC_000020.10:g.338 77318_33877319ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 33,877,318 | 33,877,318 | ||
essv16178653 | Submitted genomic | NC_000020.10:g.338 77318_33877319ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 33,877,318 | 33,877,318 | ||
essv16178654 | Submitted genomic | NC_000020.10:g.338 77318_33877319ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 33,877,318 | 33,877,318 | ||
essv16178655 | Submitted genomic | NC_000020.10:g.338 77318_33877319ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 33,877,318 | 33,877,318 |