A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422249



Internal ID7906346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:20122116..20585464hg38UCSC Ensembl
Innerchr3:20163608..20626956hg19UCSC Ensembl
Innerchr3:20138612..20601960hg18UCSC Ensembl
Innerchr3:20138612..20601960hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38463349
hg19463349
hg18463349
hg17463349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161535
SamplesND04502
Known GenesKAT2B, SGOL1, SGOL1-AS1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422249
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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