A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990446



Internal ID12634613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179332393..179534393hg38UCSC Ensembl
Innerchr5:178759394..178961394hg19UCSC Ensembl
Innerchr5:178692000..178894000hg18UCSC Ensembl
Innerchr5:178692000..178894000hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38202001
hg19202001
hg18202001
hg17202001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34254
Supporting Variants
SamplesNA18956
Known GenesADAMTS2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990446
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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