A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11432614



Internal ID5273701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52928654..52930806hg38UCSC Ensembl
Innerchr4:52928704..52930756hg38UCSC Ensembl
Outerchr4:52928595..52930865hg38UCSC Ensembl
chr4:53794821..53796973hg19UCSC Ensembl
Innerchr4:53794871..53796923hg19UCSC Ensembl
Outerchr4:53794762..53797032hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382153
hg192153
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600513
Supporting Variants
SamplesNA18643
Known GenesSCFD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11432614
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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