A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986267



Internal ID12628890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67258711..67860511hg38UCSC Ensembl
Innerchr8:68170946..68772746hg19UCSC Ensembl
Innerchr8:68333500..68935300hg18UCSC Ensembl
Innerchr8:68333500..68935300hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38601801
hg19601801
hg18601801
hg17601801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752263
Supporting Variants
SamplesBEC_596
Known GenesARFGEF1, CPA6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986267
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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