A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659167



Internal ID9578586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3653742..3669646hg38UCSC Ensembl
Outerchr16:3653585..3669799hg38UCSC Ensembl
Innerchr16:3703743..3719647hg19UCSC Ensembl
Outerchr16:3703586..3719800hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3816215
hg1916215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6052272, essv5987716
SamplesHG00734, HG00249
Known GenesDNASE1, TRAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659167
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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