A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979574



Internal ID12980393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62752217..62806517hg38UCSC Ensembl
Innerchr5:62048044..62102344hg19UCSC Ensembl
Innerchr5:62083800..62138100hg18UCSC Ensembl
Innerchr5:62083800..62138100hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3854301
hg1954301
hg1854301
hg1754301
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979574
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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