A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751725



Internal ID12638591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46080231..46286690hg38UCSC Ensembl
Innerchr17:44157597..44364056hg19UCSC Ensembl
Innerchr17:41513416..41719833hg18UCSC Ensembl
Innerchr17:41513416..41719833hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38206460
hg19206460
hg18206418
hg17206418
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv128e55
Supporting Variantsessv6978032, essv6978033, essv6986523, essv6990188
SamplesNA10859
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)esv2751725
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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