A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788306



Internal ID19180324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29321647..29433992hg38UCSC Ensembl
Innerchr5:29321754..29434099hg19UCSC Ensembl
Innerchr5:29357511..29469856hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38112346
hg19112346
hg18112346
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894163
Supporting Variants
Samples
Known GenesLOC101929681
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788306
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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