A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586368



Internal ID7057750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49869299..49880927hg38UCSC Ensembl
Innerchr18:47395669..47407297hg19UCSC Ensembl
Innerchr18:45649667..45661295hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3811629
hg1911629
hg1811629
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004902
Supporting Variants
SamplesHuRef
Known GenesMYO5B
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586368
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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