A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9925870



Internal ID6551163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46036519..46154035hg38UCSC Ensembl
Innerchr1:46036669..46153885hg38UCSC Ensembl
Outerchr1:46036369..46154185hg38UCSC Ensembl
chr1:46502191..46619707hg19UCSC Ensembl
Innerchr1:46502341..46619557hg19UCSC Ensembl
Outerchr1:46502041..46619857hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38117517
hg19117517
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585928
Supporting Variants
SamplesHG02675
Known GenesPIK3R3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9925870
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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