A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979357



Internal ID12980046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100110472..100328823hg38UCSC Ensembl
Innerchr5:99446176..99664527hg19UCSC Ensembl
Innerchr5:99474075..99692426hg18UCSC Ensembl
Innerchr5:99474075..99692426hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38218352
hg19218352
hg18218352
hg17218352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34624
Supporting Variants
SamplesNA18532
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979357
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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