esv3880534
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:14
- 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: 250 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 232 SVs from 34 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3880534 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
esv3880534 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv24313615 | insertion | HG00100 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,549 |
essv24313616 | insertion | HG00189 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,558 |
essv24313617 | insertion | HG00373 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,915 |
essv24313618 | insertion | HG01134 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,536 |
essv24313619 | insertion | HG01149 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,206 |
essv24313620 | insertion | HG01168 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,275 |
essv24313621 | insertion | NA12718 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,262 |
essv24313622 | insertion | NA18618 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,911 |
essv24313623 | insertion | NA18990 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,640 |
essv24313624 | insertion | NA19085 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,590 |
essv24313625 | insertion | NA20757 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,362 |
essv24313626 | insertion | NA20775 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,419 |
essv24313627 | insertion | NA20802 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,066 |
essv24313628 | insertion | NA20819 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,410 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv24313615 | Remapped | Perfect | NC_000017.11:g.(81 424935_81424938)_( 81424932_81424935) ins1728 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
essv24313616 | Remapped | Perfect | NC_000017.11:g.(81 424935_81424938)_( 81424932_81424935) ins1728 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
essv24313617 | Remapped | Perfect | NC_000017.11:g.(81 424935_81424938)_( 81424932_81424935) ins1728 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
essv24313618 | Remapped | Perfect | NC_000017.11:g.(81 424935_81424938)_( 81424932_81424935) ins1728 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
essv24313619 | Remapped | Perfect | NC_000017.11:g.(81 424935_81424938)_( 81424932_81424935) ins1728 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
essv24313620 | Remapped | Perfect | NC_000017.11:g.(81 424935_81424938)_( 81424932_81424935) ins1728 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
essv24313621 | Remapped | Perfect | NC_000017.11:g.(81 424935_81424938)_( 81424932_81424935) ins1728 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
essv24313622 | Remapped | Perfect | NC_000017.11:g.(81 424935_81424938)_( 81424932_81424935) ins1728 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
essv24313623 | Remapped | Perfect | NC_000017.11:g.(81 424935_81424938)_( 81424932_81424935) ins1728 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
essv24313624 | Remapped | Perfect | NC_000017.11:g.(81 424935_81424938)_( 81424932_81424935) ins1728 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
essv24313625 | Remapped | Perfect | NC_000017.11:g.(81 424935_81424938)_( 81424932_81424935) ins1728 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
essv24313626 | Remapped | Perfect | NC_000017.11:g.(81 424935_81424938)_( 81424932_81424935) ins1728 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
essv24313627 | Remapped | Perfect | NC_000017.11:g.(81 424935_81424938)_( 81424932_81424935) ins1728 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
essv24313628 | Remapped | Perfect | NC_000017.11:g.(81 424935_81424938)_( 81424932_81424935) ins1728 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 81,424,935 (-0, +3) | 81,424,935 (-3, +0) |
essv24313615 | Submitted genomic | NC_000017.10:g.(79 398735_79398738)_( 79398732_79398735) ins1728 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) | ||
essv24313616 | Submitted genomic | NC_000017.10:g.(79 398735_79398738)_( 79398732_79398735) ins1728 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) | ||
essv24313617 | Submitted genomic | NC_000017.10:g.(79 398735_79398738)_( 79398732_79398735) ins1728 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) | ||
essv24313618 | Submitted genomic | NC_000017.10:g.(79 398735_79398738)_( 79398732_79398735) ins1728 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) | ||
essv24313619 | Submitted genomic | NC_000017.10:g.(79 398735_79398738)_( 79398732_79398735) ins1728 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) | ||
essv24313620 | Submitted genomic | NC_000017.10:g.(79 398735_79398738)_( 79398732_79398735) ins1728 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) | ||
essv24313621 | Submitted genomic | NC_000017.10:g.(79 398735_79398738)_( 79398732_79398735) ins1728 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) | ||
essv24313622 | Submitted genomic | NC_000017.10:g.(79 398735_79398738)_( 79398732_79398735) ins1728 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) | ||
essv24313623 | Submitted genomic | NC_000017.10:g.(79 398735_79398738)_( 79398732_79398735) ins1728 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) | ||
essv24313624 | Submitted genomic | NC_000017.10:g.(79 398735_79398738)_( 79398732_79398735) ins1728 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) | ||
essv24313625 | Submitted genomic | NC_000017.10:g.(79 398735_79398738)_( 79398732_79398735) ins1728 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) | ||
essv24313626 | Submitted genomic | NC_000017.10:g.(79 398735_79398738)_( 79398732_79398735) ins1728 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) | ||
essv24313627 | Submitted genomic | NC_000017.10:g.(79 398735_79398738)_( 79398732_79398735) ins1728 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) | ||
essv24313628 | Submitted genomic | NC_000017.10:g.(79 398735_79398738)_( 79398732_79398735) ins1728 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 79,398,735 (-0, +3) | 79,398,735 (-3, +0) |