A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672151



Internal ID9591570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84214901..84221445hg38UCSC Ensembl
chr16:84248507..84255051hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg386545
hg196545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6424287
SamplesNA20800
Known GenesKCNG4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672151
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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