A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161358



Internal ID7906072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161628725..161781763hg38UCSC Ensembl
Innerchr6:162049757..162202795hg19UCSC Ensembl
Innerchr6:161969747..162122785hg18UCSC Ensembl
Innerchr6:162020168..162173206hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38153039
hg19153039
hg18153039
hg17153039
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2422275
Supporting Variants
SamplesND05536
Known GenesPARK2
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161358
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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