A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422302



Internal ID7906399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112788059..112894153hg38UCSC Ensembl
Innerchr9:115550339..115656433hg19UCSC Ensembl
Innerchr9:114590160..114696254hg18UCSC Ensembl
Innerchr9:112629894..112735988hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38106095
hg19106095
hg18106095
hg17106095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161446
SamplesND04484
Known GenesSLC46A2, SNX30
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422302
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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