A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992100



Internal ID6728062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165158182..165171586hg38UCSC Ensembl
Innerchr2:166014692..166028096hg19UCSC Ensembl
Innerchr2:165722938..165736342hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3813405
hg1913405
hg1813405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586381
SamplesHuRef
Known GenesSCN3A
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992100
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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