esv3883169
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 114 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 27 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3883169 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,046 (-5, +0) |
esv3883169 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,856 (-5, +0) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv24605585 | insertion | HG00129 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,479 |
essv24605586 | insertion | HG00273 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,668 |
essv24605587 | insertion | HG00551 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,247 |
essv24605588 | insertion | HG01501 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,260 |
essv24605589 | insertion | HG02220 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,180 |
essv24605590 | insertion | NA10847 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,566 |
essv24605591 | insertion | NA11893 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,664 |
essv24605592 | insertion | NA20529 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,384 |
essv24605593 | insertion | NA20773 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,348 |
essv24605594 | insertion | NA20787 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,600 |
essv24605595 | insertion | NA20798 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,695 |
essv24605596 | insertion | NA20799 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,463 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv24605585 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630041_15630046) ins115 | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,046 (-5, +0) |
essv24605586 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630041_15630046) ins115 | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,046 (-5, +0) |
essv24605587 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630041_15630046) ins115 | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,046 (-5, +0) |
essv24605588 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630041_15630046) ins115 | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,046 (-5, +0) |
essv24605589 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630041_15630046) ins115 | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,046 (-5, +0) |
essv24605590 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630041_15630046) ins115 | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,046 (-5, +0) |
essv24605591 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630041_15630046) ins115 | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,046 (-5, +0) |
essv24605592 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630041_15630046) ins115 | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,046 (-5, +0) |
essv24605593 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630041_15630046) ins115 | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,046 (-5, +0) |
essv24605594 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630041_15630046) ins115 | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,046 (-5, +0) |
essv24605595 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630041_15630046) ins115 | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,046 (-5, +0) |
essv24605596 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630041_15630046) ins115 | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,046 (-5, +0) |
essv24605585 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740851_15740856)i ns115 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,856 (-5, +0) | ||
essv24605586 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740851_15740856)i ns115 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,856 (-5, +0) | ||
essv24605587 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740851_15740856)i ns115 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,856 (-5, +0) | ||
essv24605588 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740851_15740856)i ns115 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,856 (-5, +0) | ||
essv24605589 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740851_15740856)i ns115 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,856 (-5, +0) | ||
essv24605590 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740851_15740856)i ns115 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,856 (-5, +0) | ||
essv24605591 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740851_15740856)i ns115 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,856 (-5, +0) | ||
essv24605592 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740851_15740856)i ns115 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,856 (-5, +0) | ||
essv24605593 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740851_15740856)i ns115 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,856 (-5, +0) | ||
essv24605594 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740851_15740856)i ns115 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,856 (-5, +0) | ||
essv24605595 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740851_15740856)i ns115 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,856 (-5, +0) | ||
essv24605596 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740851_15740856)i ns115 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,856 (-5, +0) |