A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751743



Internal ID12638609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46275506hg38UCSC Ensembl
Innerchr17:44165803..44352872hg19UCSC Ensembl
Innerchr17:41521621..41708649hg18UCSC Ensembl
Innerchr17:41521621..41708649hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38187070
hg19187070
hg18187029
hg17187029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv129e55
Supporting Variantsessv6989743, essv6989348
SamplesBEC_547
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)esv2751743
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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