A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422196



Internal ID8252979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:66467758..66721348hg38UCSC Ensembl
Innerchr13:67041890..67295480hg19UCSC Ensembl
Innerchr13:65939891..66193481hg18UCSC Ensembl
Innerchr13:65939891..66193481hg17UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg38253591
hg19253591
hg18253591
hg17253591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161239
SamplesND01690
Known GenesPCDH9
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422196
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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