A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993391



Internal ID6729348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:96005773..96066106hg38UCSC Ensembl
Innerchr2:96671521..96731854hg19UCSC Ensembl
Innerchr2:96035248..96095581hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3860334
hg1960334
hg1860334
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586398
SamplesHuRef
Known GenesFAHD2CP, GPAT2
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993391
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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