A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9754758



Internal ID18382318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46032218..46032273hg38UCSC Ensembl
chr2:46259357..46259412hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3556011
Supporting Variants
Samples
Known GenesPRKCE
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9754758
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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