A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586122



Internal ID7057504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45587295..45588405hg38UCSC Ensembl
Innerchr22:45983175..45984285hg19UCSC Ensembl
Innerchr22:44361839..44362949hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381111
hg191111
hg181111
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005230
Supporting Variants
SamplesHuRef
Known GenesFBLN1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586122
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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