A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161373



Internal ID7906087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30950256..31122236hg38UCSC Ensembl
Innerchr12:31103190..31275170hg19UCSC Ensembl
Innerchr12:30994457..31166437hg18UCSC Ensembl
Innerchr12:30994457..31166437hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38171981
hg19171981
hg18171981
hg17171981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422323
Supporting Variants
SamplesND03790
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)essv5161373
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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