A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892048



Internal ID18839758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45674616..45719660hg38UCSC Ensembl
Outerchr2:45674616..45719660hg38UCSC Ensembl
Innerchr2:45901755..45946799hg19UCSC Ensembl
Outerchr2:45901755..45946799hg19UCSC Ensembl
Innerchr2:45755259..45800303hg18UCSC Ensembl
Outerchr2:45755259..45800303hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3845045
hg1945045
hg1845045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797258
Samples
Known GenesPRKCE
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892048
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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