A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600513



Internal ID6987555
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11432613, essv11432614
SamplesNA18643, HG03063
Known GenesSCFD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600513
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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