A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11427912



Internal ID4156625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47712743..47720776hg38UCSC Ensembl
Innerchr4:47712765..47720754hg38UCSC Ensembl
Outerchr4:47712721..47720798hg38UCSC Ensembl
chr4:47714760..47722793hg19UCSC Ensembl
Innerchr4:47714782..47722771hg19UCSC Ensembl
Outerchr4:47714738..47722815hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg388034
hg198034
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600453
Supporting Variants
SamplesHG03760
Known GenesCORIN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11427912
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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