A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8e196



Internal ID20123207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31066013..31129217hg38UCSC Ensembl
chr12:31218947..31282151hg19UCSC Ensembl
chr12:31110214..31173418hg18UCSC Ensembl
chr12:31110214..31173418hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3863205
hg1963205
hg1863205
hg1763205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2422453, esv2422436, esv2422282, esv2422386, esv2422449, esv2422218, esv2422267
SamplesND04498, ND01220, ND04291, ND01695, ND05370, ND03633, ND04069
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)dgv8e196
Frequency
Sample Size181
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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