A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978834



Internal ID12632501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088416..46286657hg38UCSC Ensembl
Innerchr17:44165782..44364023hg19UCSC Ensembl
Innerchr17:41521600..41719800hg18UCSC Ensembl
Innerchr17:41521600..41719800hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38198242
hg19198242
hg18198201
hg17198201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751738
Supporting Variants
SamplesNA12717
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978834
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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