A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979068



Internal ID12632906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46080231..46120237hg38UCSC Ensembl
Innerchr17:44157597..44197603hg19UCSC Ensembl
Innerchr17:41513416..41553381hg18UCSC Ensembl
Innerchr17:41513416..41553381hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3840007
hg1940007
hg1839966
hg1739966
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751729
Supporting Variants
SamplesNA12874
Known GenesKANSL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979068
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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