A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986208



Internal ID12628540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67338211..67679911hg38UCSC Ensembl
Innerchr8:68250446..68592146hg19UCSC Ensembl
Innerchr8:68413000..68754700hg18UCSC Ensembl
Innerchr8:68413000..68754700hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38341701
hg19341701
hg18341701
hg17341701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752264
Supporting Variants
SamplesBEC_569
Known GenesARFGEF1, CPA6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986208
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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