A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662994



Internal ID9929099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:105575905..105581336hg38UCSC Ensembl
Outerchr4:105575868..105581386hg38UCSC Ensembl
Innerchr4:106497062..106502493hg19UCSC Ensembl
Outerchr4:106497025..106502543hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg385519
hg195519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5958688
SamplesNA19920
Known GenesARHGEF38
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662994
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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