A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986893



Internal ID12980379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62751817..62798617hg38UCSC Ensembl
Innerchr5:62047644..62094444hg19UCSC Ensembl
Innerchr5:62083400..62130200hg18UCSC Ensembl
Innerchr5:62083400..62130200hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3846801
hg1946801
hg1846801
hg1746801
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)essv6986893
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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