A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779742



Internal ID19169665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:54210326..54215623hg38UCSC Ensembl
Innerchr3:54244353..54249650hg19UCSC Ensembl
Innerchr3:54219393..54224690hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg385298
hg195298
hg185298
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893697
Supporting Variants
Samples
Known GenesCACNA2D3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779742
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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