A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661897



Internal ID9928002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40502868..40566375hg38UCSC Ensembl
chr4:40504885..40568392hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3863508
hg1963508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6064634
SamplesNA19783
Known GenesRBM47
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661897
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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