A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988509



Internal ID12973417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:166095823..166634412hg38UCSC Ensembl
Innerchr5:165522828..166061417hg19UCSC Ensembl
Innerchr5:165455406..165993995hg18UCSC Ensembl
Innerchr5:165455406..165993995hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38538590
hg19538590
hg18538590
hg17538590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752062
Supporting Variants
SamplesBEC_405
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988509
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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