A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161484



Internal ID7906198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30950256..31193061hg38UCSC Ensembl
Innerchr12:31103190..31345995hg19UCSC Ensembl
Innerchr12:30994457..31237262hg18UCSC Ensembl
Innerchr12:30994457..31237262hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38242806
hg19242806
hg18242806
hg17242806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422264
Supporting Variants
SamplesND03662
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)essv5161484
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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