A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422258



Internal ID7906355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68619929..69048424hg38UCSC Ensembl
Innerchr9:71234845..71663340hg19UCSC Ensembl
Innerchr9:70424665..70853160hg18UCSC Ensembl
Innerchr9:68464399..68892894hg17UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg38428496
hg19428496
hg18428496
hg17428496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161274
SamplesND05155
Known GenesFAM122A, FXN, PIP5K1B, PRKACG
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422258
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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