A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678642



Internal ID9944747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:53666134..53669296hg38UCSC Ensembl
Outerchr5:53666097..53669346hg38UCSC Ensembl
Innerchr5:52961964..52965126hg19UCSC Ensembl
Outerchr5:52961927..52965176hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383250
hg193250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6144835
SamplesNA19652
Known GenesNDUFS4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678642
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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