A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668011



Internal ID9934116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:168651963..168666672hg38UCSC Ensembl
Outerchr3:168651806..168666825hg38UCSC Ensembl
Innerchr3:168369751..168384460hg19UCSC Ensembl
Outerchr3:168369594..168384613hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3815020
hg1915020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5487031
SamplesNA19904
Known GenesEGFEM1P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668011
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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