A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5123549



Internal ID7867407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:147015583..147017695hg38UCSC Ensembl
Innerchr5:146395146..146397258hg19UCSC Ensembl
Innerchr5:146375339..146377451hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382113
hg192113
hg182113
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422173
Supporting Variants
SamplesNA18605
Known GenesPPP2R2B
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)essv5123549
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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