A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788226



Internal ID19176380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:11428364..12228903hg38UCSC Ensembl
Innerchr5:11428476..12229015hg19UCSC Ensembl
Innerchr5:11481476..12282015hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38800540
hg19800540
hg18800540
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894127
Supporting Variants
Samples
Known GenesCTNND2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=129
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788226
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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