A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988943



Internal ID12637344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46089134..46211213hg38UCSC Ensembl
Innerchr17:44166500..44288579hg19UCSC Ensembl
Innerchr17:41522318..41644356hg18UCSC Ensembl
Innerchr17:41522318..41644356hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38122080
hg19122080
hg18122039
hg17122039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751731
Supporting Variants
SamplesSPC_47
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988943
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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