A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673633



Internal ID9593052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6727167..6754265hg38UCSC Ensembl
Outerchr16:6727130..6754315hg38UCSC Ensembl
Innerchr16:6777168..6804266hg19UCSC Ensembl
Outerchr16:6777131..6804316hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3827186
hg1927186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5655560
SamplesNA18501
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673633
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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