A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751686



Internal ID12638552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45962198..46286690hg38UCSC Ensembl
Innerchr17:44039564..44364056hg19UCSC Ensembl
Innerchr17:41395400..41719833hg18UCSC Ensembl
Innerchr17:41395400..41719833hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38324493
hg19324493
hg18324434
hg17324434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981254, essv6981253
SamplesBEC_374
Known GenesKANSL1, KANSL1-AS1, LOC644172, MAPT, STH
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751686
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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