A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5504464



Internal ID8481867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146925926..146937764hg38UCSC Ensembl
chr5:146305489..146317327hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3811839
hg1911839
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660911
Supporting Variants
SamplesNA20509
Known GenesPPP2R2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5504464
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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