A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979613



Internal ID12980457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123262448..123294659hg38UCSC Ensembl
Innerchr5:122598142..122630353hg19UCSC Ensembl
Innerchr5:122626041..122658252hg18UCSC Ensembl
Innerchr5:122626041..122658252hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3832212
hg1932212
hg1832212
hg1732212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34878
Supporting Variants
SamplesNA18579
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979613
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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