A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983372



Internal ID12629502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46062316..46278257hg38UCSC Ensembl
Innerchr17:44139682..44355623hg19UCSC Ensembl
Innerchr17:41495500..41711400hg18UCSC Ensembl
Innerchr17:41495500..41711400hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38215942
hg19215942
hg18215901
hg17215901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751691
Supporting Variants
SamplesBEC_644
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983372
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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