A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990342



Internal ID7061468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125084201..125084785hg38UCSC Ensembl
Innerchr3:124803045..124803629hg19UCSC Ensembl
Innerchr3:126285735..126286319hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38585
hg19585
hg18585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586383
SamplesHuRef
Known GenesSLC12A8
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990342
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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