A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659340



Internal ID9925445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138934820..138945763hg38UCSC Ensembl
Outerchr5:138934783..138945813hg38UCSC Ensembl
Innerchr5:138270509..138281452hg19UCSC Ensembl
Outerchr5:138270472..138281502hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3811031
hg1911031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6332604
SamplesHG00692
Known GenesCTNNA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659340
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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