A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995004



Internal ID7079539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8218680..8226486hg38UCSC Ensembl
Innerchr12:8371276..8379082hg19UCSC Ensembl
Innerchr12:8262543..8270349hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387807
hg197807
hg187807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586113
SamplesHuRef
Known GenesFAM90A1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995004
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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