A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987410



Internal ID12978697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:110429462..110725553hg38UCSC Ensembl
Innerchr5:109765163..110061254hg19UCSC Ensembl
Innerchr5:109793062..110089153hg18UCSC Ensembl
Innerchr5:109793062..110089153hg17UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38296092
hg19296092
hg18296092
hg17296092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34732
Supporting Variants
SamplesNA11882
Known GenesTMEM232
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987410
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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