A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789303



Internal ID19169223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62685155..62844210hg38UCSC Ensembl
Innerchr5:61980982..62140037hg19UCSC Ensembl
Innerchr5:62016738..62175793hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38159056
hg19159056
hg18159056
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894199
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=38
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789303
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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