A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675913



Internal ID9595332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:147013353..147017359hg38UCSC Ensembl
Outerchr5:147012982..147017729hg38UCSC Ensembl
Innerchr5:146392916..146396922hg19UCSC Ensembl
Outerchr5:146392545..146397292hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg384748
hg194748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5718003, essv5586781, essv5915837, essv6031023, essv5843380, essv5464716, essv6371599, essv5930434, essv5697315, essv6138113, essv6296918, essv5647365, essv5444884, essv6186701, essv6212102, essv6207315, essv6189888, essv5809681, essv5400795, essv5653851, essv5919479, essv5548371, essv5889548
SamplesNA18605, NA18612, NA18603, NA18573, NA18608, NA18546, NA18596, NA18632, NA18559, NA18576, NA18592, NA18547, NA18637, NA18593, NA18633, NA18572, NA18613, NA18552, NA18599, NA18538, NA18560, NA18549, NA18555
Known GenesPPP2R2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675913
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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