A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793176



Internal ID18813876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79366031..79418042hg38UCSC Ensembl
Innerchr5:78661854..78713865hg19UCSC Ensembl
Innerchr5:78697610..78749621hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3852012
hg1952012
hg1852012
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890659
Supporting Variants
Samples
Known GenesHOMER1
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793176
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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