A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982809



Internal ID12628887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67444849..67876258hg38UCSC Ensembl
Innerchr8:68357084..68788493hg19UCSC Ensembl
Innerchr8:68519638..68951047hg18UCSC Ensembl
Innerchr8:68519638..68951047hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38431410
hg19431410
hg18431410
hg17431410
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982809
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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