A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981427



Internal ID12625407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46214760hg38UCSC Ensembl
Innerchr17:44165803..44292126hg19UCSC Ensembl
Innerchr17:41521621..41647903hg18UCSC Ensembl
Innerchr17:41521621..41647903hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38126324
hg19126324
hg18126283
hg17126283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751734
Supporting Variants
SamplesBEC_191
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981427
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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