A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005230



Internal ID7070326
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586122
SamplesHuRef
Known GenesFBLN1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005230
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer