A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422285



Internal ID7906382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:65245823..65487069hg38UCSC Ensembl
Innerchr11:65013294..65254540hg19UCSC Ensembl
Innerchr11:64769870..65011116hg18UCSC Ensembl
Innerchr11:64769870..65011116hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38241247
hg19241247
hg18241247
hg17241247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161335
SamplesND04575
Known GenesCDC42EP2, DPF2, FRMD8, MIR612, NEAT1, POLA2, SLC25A45, TIGD3
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422285
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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