A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978958



Internal ID12632709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16485208..16914328hg38UCSC Ensembl
Innerchr8:16342717..16771837hg19UCSC Ensembl
Innerchr8:16387088..16816208hg18UCSC Ensembl
Innerchr8:16387088..16816208hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38429121
hg19429121
hg18429121
hg17429121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34335
Supporting Variants
SamplesNA12802
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978958
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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