A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979744



Internal ID12633984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162427897..162636237hg38UCSC Ensembl
Innerchr6:162848929..163057269hg19UCSC Ensembl
Innerchr6:162768919..162977259hg18UCSC Ensembl
Innerchr6:162819340..163027680hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38208341
hg19208341
hg18208341
hg17208341
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)essv6979744
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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