A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751751



Internal ID12638617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46089116..46278268hg38UCSC Ensembl
Innerchr17:44166482..44355634hg19UCSC Ensembl
Innerchr17:41522300..41711411hg18UCSC Ensembl
Innerchr17:41522300..41711411hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38189153
hg19189153
hg18189112
hg17189112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv128e55
Supporting Variantsessv6984925, essv6984924
SamplesSPC_194
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751751
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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