A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34732



Internal ID12990768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:110429462..110729810hg38UCSC Ensembl
Innerchr5:109765163..110065511hg19UCSC Ensembl
Innerchr5:109793062..110093410hg18UCSC Ensembl
Innerchr5:109793062..110093410hg17UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38300349
hg19300349
hg18300349
hg17300349
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978535, essv6978534, essv6987411, essv6987410
SamplesNA11882
Known GenesTMEM232
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)esv34732
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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