A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35102



Internal ID12644452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162406432..162636237hg38UCSC Ensembl
Innerchr6:162827464..163057269hg19UCSC Ensembl
Innerchr6:162747454..162977259hg18UCSC Ensembl
Innerchr6:162797875..163027680hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38229806
hg19229806
hg18229806
hg17229806
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979744, essv6979743, essv6986931, essv6986930, essv6979745
SamplesNA18620
Known GenesPARK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv35102
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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