A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586497



Internal ID6711193
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992850
Supporting Variants
SamplesHuRef
Known GenesLTBP1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586497
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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