A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986930



Internal ID12633980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162420557..162618557hg38UCSC Ensembl
Innerchr6:162841589..163039589hg19UCSC Ensembl
Innerchr6:162761579..162959579hg18UCSC Ensembl
Innerchr6:162812000..163010000hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38198001
hg19198001
hg18198001
hg17198001
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986930
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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