A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34581



Internal ID12990618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:123350166..124326240hg38UCSC Ensembl
Innerchr4:124271321..125247395hg19UCSC Ensembl
Innerchr4:124490771..125466845hg18UCSC Ensembl
Innerchr4:124628926..125605000hg17UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38976075
hg19976075
hg18976075
hg17976075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978361, essv6978364, essv6978363, essv6978362, essv6978360
SamplesNA19007
Known GenesLINC01091, SPRY1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34581
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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