A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422254



Internal ID7906351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30975197..31173574hg38UCSC Ensembl
Innerchr12:31128132..31326508hg19UCSC Ensembl
Innerchr12:31019399..31217775hg18UCSC Ensembl
Innerchr12:31019399..31217775hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38198378
hg19198377
hg18198377
hg17198377
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7e196
Supporting Variantsessv5161269
SamplesND03406
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)esv2422254
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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