A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7e196



Internal ID20123206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30919025..31193061hg38UCSC Ensembl
chr12:31071959..31345995hg19UCSC Ensembl
chr12:30963226..31237262hg18UCSC Ensembl
chr12:30963226..31237262hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38274037
hg19274037
hg18274037
hg17274037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2422366, esv2422264, esv2422323, esv2422496, esv2422254
SamplesND04019, ND03662, ND03406, ND03231, ND03790
Known GenesDDX11, DDX11-AS1, TSPAN11
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)dgv7e196
Frequency
Sample Size181
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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