A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986268



Internal ID12628889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67381111..67858411hg38UCSC Ensembl
Innerchr8:68293346..68770646hg19UCSC Ensembl
Innerchr8:68455900..68933200hg18UCSC Ensembl
Innerchr8:68455900..68933200hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38477301
hg19477301
hg18477301
hg17477301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752263
Supporting Variants
SamplesBEC_596
Known GenesCPA6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986268
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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