A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751706



Internal ID12638572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46080231..46286657hg38UCSC Ensembl
Innerchr17:44157597..44364023hg19UCSC Ensembl
Innerchr17:41513416..41719800hg18UCSC Ensembl
Innerchr17:41513416..41719800hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38206427
hg19206427
hg18206385
hg17206385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv128e55
Supporting Variantsessv6983592, essv6983591, essv6986465
SamplesBEC_671
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)esv2751706
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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