A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553064



Internal ID18407454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6460052..6460112hg38UCSC Ensembl
chr16:6510053..6510113hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751811
Samples
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553064
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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