A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422282



Internal ID7906379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31068119..31121580hg38UCSC Ensembl
Innerchr12:31221053..31274514hg19UCSC Ensembl
Innerchr12:31112320..31165781hg18UCSC Ensembl
Innerchr12:31112320..31165781hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3853462
hg1953462
hg1853462
hg1753462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8e196
Supporting Variantsessv5161266
SamplesND04069
Known GenesDDX11, DDX11-AS1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422282
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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