A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984804



Internal ID12636865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46089134..46142189hg38UCSC Ensembl
Innerchr17:44166500..44219555hg19UCSC Ensembl
Innerchr17:41522318..41575332hg18UCSC Ensembl
Innerchr17:41522318..41575332hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3853056
hg1953056
hg1853015
hg1753015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751700
Supporting Variants
SamplesSPC_180
Known GenesKANSL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984804
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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