A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988059



Internal ID12979211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17665443..17788234hg38UCSC Ensembl
Innerchr5:17665552..17788343hg19UCSC Ensembl
Innerchr5:17698300..17824100hg18UCSC Ensembl
Innerchr5:17698300..17824100hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38122792
hg19122792
hg18125801
hg17125801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35046
Supporting Variants
SamplesNA12740
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988059
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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