A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979358



Internal ID12980047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100110497..100328797hg38UCSC Ensembl
Innerchr5:99446201..99664501hg19UCSC Ensembl
Innerchr5:99474100..99692400hg18UCSC Ensembl
Innerchr5:99474100..99692400hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38218301
hg19218301
hg18218301
hg17218301
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)essv6979358
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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