A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990223



Internal ID12635119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179332393..179504393hg38UCSC Ensembl
Innerchr5:178759394..178931394hg19UCSC Ensembl
Innerchr5:178692000..178864000hg18UCSC Ensembl
Innerchr5:178692000..178864000hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38172001
hg19172001
hg18172001
hg17172001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34709
Supporting Variants
SamplesNA19000
Known GenesADAMTS2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990223
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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