A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9751996



Internal ID18379556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23923789..23930291hg38UCSC Ensembl
Outerchr16:23922680..23931179hg38UCSC Ensembl
Innerchr16:23935110..23941612hg19UCSC Ensembl
Outerchr16:23934001..23942500hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3553249
Supporting Variants
Samples
Known GenesPRKCB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9751996
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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