esv3601407
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,440
- 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: 448 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 448 SVs from 69 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3601407 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 92,641,809 (-234, +0) | 92,657,248 (-0, +381) |
esv3601407 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 93,562,960 (-234, +0) | 93,578,399 (-0, +381) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv11537404 | deletion | SAMN00006364 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,776 |
essv11537405 | deletion | SAMN00006549 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,738 |
essv11537406 | deletion | SAMN00006585 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,864 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv11537404 | Remapped | Perfect | NC_000004.12:g.(92 641575_92641809)_( 92657248_92657629) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 92,641,809 (-234, +0) | 92,657,248 (-0, +381) |
essv11537405 | Remapped | Perfect | NC_000004.12:g.(92 641575_92641809)_( 92657248_92657629) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 92,641,809 (-234, +0) | 92,657,248 (-0, +381) |
essv11537406 | Remapped | Perfect | NC_000004.12:g.(92 641575_92641809)_( 92657248_92657629) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 92,641,809 (-234, +0) | 92,657,248 (-0, +381) |
essv11537404 | Submitted genomic | NC_000004.11:g.(93 562726_93562960)_( 93578399_93578780) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 93,562,960 (-234, +0) | 93,578,399 (-0, +381) | ||
essv11537405 | Submitted genomic | NC_000004.11:g.(93 562726_93562960)_( 93578399_93578780) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 93,562,960 (-234, +0) | 93,578,399 (-0, +381) | ||
essv11537406 | Submitted genomic | NC_000004.11:g.(93 562726_93562960)_( 93578399_93578780) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 93,562,960 (-234, +0) | 93,578,399 (-0, +381) |