esv3603183
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12
- 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: 234 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 234 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3603183 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 171,985,431 (-0, +12) | 171,985,442 (-12, +0) |
esv3603183 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 172,906,582 (-0, +12) | 172,906,593 (-12, +0) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv11699728 | insertion | SAMN00006344 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,768 |
essv11699729 | insertion | SAMN01036843 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,809 |
essv11699730 | insertion | SAMN00009163 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,929 |
essv11699731 | insertion | SAMN00001230 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,901 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv11699728 | Remapped | Perfect | NC_000004.12:g.(17 1985431_171985443) _(171985430_171985 442)ins? | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 171,985,431 (-0, +12) | 171,985,442 (-12, +0) |
essv11699729 | Remapped | Perfect | NC_000004.12:g.(17 1985431_171985443) _(171985430_171985 442)ins? | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 171,985,431 (-0, +12) | 171,985,442 (-12, +0) |
essv11699730 | Remapped | Perfect | NC_000004.12:g.(17 1985431_171985443) _(171985430_171985 442)ins? | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 171,985,431 (-0, +12) | 171,985,442 (-12, +0) |
essv11699731 | Remapped | Perfect | NC_000004.12:g.(17 1985431_171985443) _(171985430_171985 442)ins? | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 171,985,431 (-0, +12) | 171,985,442 (-12, +0) |
essv11699728 | Submitted genomic | NC_000004.11:g.(17 2906582_172906594) _(172906581_172906 593)ins? | GRCh37 (hg19) | NC_000004.11 | Chr4 | 172,906,582 (-0, +12) | 172,906,593 (-12, +0) | ||
essv11699729 | Submitted genomic | NC_000004.11:g.(17 2906582_172906594) _(172906581_172906 593)ins? | GRCh37 (hg19) | NC_000004.11 | Chr4 | 172,906,582 (-0, +12) | 172,906,593 (-12, +0) | ||
essv11699730 | Submitted genomic | NC_000004.11:g.(17 2906582_172906594) _(172906581_172906 593)ins? | GRCh37 (hg19) | NC_000004.11 | Chr4 | 172,906,582 (-0, +12) | 172,906,593 (-12, +0) | ||
essv11699731 | Submitted genomic | NC_000004.11:g.(17 2906582_172906594) _(172906581_172906 593)ins? | GRCh37 (hg19) | NC_000004.11 | Chr4 | 172,906,582 (-0, +12) | 172,906,593 (-12, +0) |