A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422322



Internal ID7906419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162102803..162384768hg38UCSC Ensembl
Innerchr6:162523835..162805800hg19UCSC Ensembl
Innerchr6:162443825..162725790hg18UCSC Ensembl
Innerchr6:162494246..162776211hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38281966
hg19281966
hg18281966
hg17281966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv26e196
Supporting Variantsessv5161332
SamplesND01583
Known GenesPARK2
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422322
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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