A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980126



Internal ID12634584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179323255..179534709hg38UCSC Ensembl
Innerchr5:178750256..178961710hg19UCSC Ensembl
Innerchr5:178682862..178894316hg18UCSC Ensembl
Innerchr5:178682862..178894316hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38211455
hg19211455
hg18211455
hg17211455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34254
Supporting Variants
SamplesNA18956
Known GenesADAMTS2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980126
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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