A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678623



Internal ID9944728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68602448..68610179hg38UCSC Ensembl
chr16:68636351..68644082hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg387732
hg197732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5787389
SamplesNA18617
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678623
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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