A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979745



Internal ID12633983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162459462..162630171hg38UCSC Ensembl
Innerchr6:162880494..163051203hg19UCSC Ensembl
Innerchr6:162800484..162971193hg18UCSC Ensembl
Innerchr6:162850905..163021614hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38170710
hg19170710
hg18170710
hg17170710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35102
Supporting Variants
SamplesNA18620
Known GenesPARK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979745
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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