A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678324



Internal ID9944429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42629376..42654304hg38UCSC Ensembl
Outerchr13:42629339..42654354hg38UCSC Ensembl
Innerchr13:43203512..43228440hg19UCSC Ensembl
Outerchr13:43203475..43228490hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3825016
hg1925016
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5445205
SamplesNA18510
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678324
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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