A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787870



Internal ID18818381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245759378..245988873hg38UCSC Ensembl
Innerchr1:245922680..246152175hg19UCSC Ensembl
Innerchr1:243989303..244218798hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38229496
hg19229496
hg18229496
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891326
Supporting Variants
Samples
Known GenesSMYD3
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=78
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787870
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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