A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670593



Internal ID9590012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146983444..146985150hg38UCSC Ensembl
chr5:146363007..146364713hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381707
hg191707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6246385
SamplesHG01073
Known GenesPPP2R2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670593
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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