A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981516



Internal ID12625566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46120256..46286657hg38UCSC Ensembl
Innerchr17:44197622..44364023hg19UCSC Ensembl
Innerchr17:41553400..41719800hg18UCSC Ensembl
Innerchr17:41553400..41719800hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38166402
hg19166402
hg18166401
hg17166401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751713
Supporting Variants
SamplesBEC_289
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981516
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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