A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678305



Internal ID9597724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4756271..4759824hg38UCSC Ensembl
chr16:4806272..4809825hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383554
hg193554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5581162
SamplesNA18988
Known GenesZNF500
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678305
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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