A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553247



Internal ID18407637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23899597..23899864hg38UCSC Ensembl
Outerchr16:23899536..23899890hg38UCSC Ensembl
Innerchr16:23910918..23911185hg19UCSC Ensembl
Outerchr16:23910857..23911211hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751994
Samples
Known GenesPRKCB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553247
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer