A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553251



Internal ID18407641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:24115217..24115394hg38UCSC Ensembl
Outerchr16:24115159..24115429hg38UCSC Ensembl
Innerchr16:24126538..24126715hg19UCSC Ensembl
Outerchr16:24126480..24126750hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751998
Samples
Known GenesPRKCB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553251
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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