A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990382



Internal ID12980404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62751852..62806516hg38UCSC Ensembl
Innerchr5:62047679..62102343hg19UCSC Ensembl
Innerchr5:62083435..62138099hg18UCSC Ensembl
Innerchr5:62083435..62138099hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3854665
hg1954665
hg1854665
hg1754665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34525
Supporting Variants
SamplesNA18572
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990382
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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