A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991802



Internal ID7061998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:69530556..69531188hg38UCSC Ensembl
Innerchr12:69924336..69924968hg19UCSC Ensembl
Innerchr12:68210603..68211235hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38633
hg19633
hg18633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3587216
SamplesHuRef
Known GenesFRS2
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991802
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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