A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986210



Internal ID12975244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:107121400..107225400hg38UCSC Ensembl
Innerchr5:106457101..106561101hg19UCSC Ensembl
Innerchr5:106485000..106589000hg18UCSC Ensembl
Innerchr5:106485000..106589000hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38104001
hg19104001
hg18104001
hg17104001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752056
Supporting Variants
SamplesBEC_57
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986210
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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