A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422299



Internal ID8253082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:159527254..159760189hg38UCSC Ensembl
Innerchr5:158954262..159187196hg19UCSC Ensembl
Innerchr5:158886840..159119774hg18UCSC Ensembl
Innerchr5:158886840..159119774hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38232936
hg19232935
hg18232935
hg17232935
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161414
SamplesND01583
Known GenesMIR548D2
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422299
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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