A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981668



Internal ID12972492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:166120417..166650417hg38UCSC Ensembl
Innerchr5:165547422..166077422hg19UCSC Ensembl
Innerchr5:165480000..166010000hg18UCSC Ensembl
Innerchr5:165480000..166010000hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38530001
hg19530001
hg18530001
hg17530001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752063
Supporting Variants
SamplesBEC_314
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981668
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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