A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670712



Internal ID9590131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6727004..6729290hg38UCSC Ensembl
chr16:6777005..6779291hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382287
hg192287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6299016
SamplesNA19012
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670712
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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