A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586926



Internal ID6711622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29691424..29692513hg38UCSC Ensembl
Innerchr12:29844357..29845446hg19UCSC Ensembl
Innerchr12:29735624..29736713hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381090
hg191090
hg181090
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010064
Supporting Variants
SamplesHuRef
Known GenesTMTC1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586926
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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