A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797258



Internal ID18832613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45674616..45719660hg38UCSC Ensembl
Innerchr2:45901755..45946799hg19UCSC Ensembl
Innerchr2:45755259..45800303hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3845045
hg1945045
hg1845045
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892048
Supporting Variants
Samples
Known GenesPRKCE
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797258
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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