A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992850



Internal ID6728811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32999344..33002074hg38UCSC Ensembl
Innerchr2:33224411..33227141hg19UCSC Ensembl
Innerchr2:33077915..33080645hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382731
hg192731
hg182731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586497
SamplesHuRef
Known GenesLTBP1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992850
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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