A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675546



Internal ID9941651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:69773385..69786143hg38UCSC Ensembl
Outerchr18:69773348..69786193hg38UCSC Ensembl
Innerchr18:67440621..67453379hg19UCSC Ensembl
Outerchr18:67440584..67453429hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3812846
hg1912846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5515712
SamplesNA20532
Known GenesDOK6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675546
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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