A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34946



Internal ID12644296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088416..46286690hg38UCSC Ensembl
Innerchr17:44165782..44364056hg19UCSC Ensembl
Innerchr17:41521600..41719833hg18UCSC Ensembl
Innerchr17:41521600..41719833hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38198275
hg19198275
hg18198234
hg17198234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv128e55
Supporting Variantsessv6978553, essv6978555, essv6990252, essv6978556, essv6978554
SamplesNA11993
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34946
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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