A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637763



Internal ID6677864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6752508..6765719hg38UCSC Ensembl
chr16:6802509..6815720hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3813212
hg1913212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15365522
SamplesHG03478
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637763
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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