A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161486



Internal ID8252889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24123445..24316790hg38UCSC Ensembl
Innerchr13:24697584..24890928hg19UCSC Ensembl
Innerchr13:23595584..23788928hg18UCSC Ensembl
Innerchr13:23595584..23788928hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38193346
hg19193345
hg18193345
hg17193345
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422202
Supporting Variants
SamplesND04312
Known GenesC1QTNF9, MIR2276, SPATA13, SPATA13-AS1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161486
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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