A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161423



Internal ID8252686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:70021557..70065930hg38UCSC Ensembl
Innerchr13:70595689..70640062hg19UCSC Ensembl
Innerchr13:69493690..69538063hg18UCSC Ensembl
Innerchr13:69493690..69538063hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3844374
hg1944374
hg1844374
hg1744374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422425
Supporting Variants
SamplesND01570
Known GenesKLHL1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161423
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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