A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3587244



Internal ID6711940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48619122..48619642hg38UCSC Ensembl
Innerchr19:49122379..49122899hg19UCSC Ensembl
Innerchr19:53814191..53814711hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38521
hg19521
hg18521
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003432
Supporting Variants
SamplesHuRef
Known GenesRPL18, SPHK2
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3587244
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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