A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787981



Internal ID18821943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:162963457..163303980hg38UCSC Ensembl
Innerchr4:163884609..164225132hg19UCSC Ensembl
Innerchr4:164104059..164444582hg18UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg38340524
hg19340524
hg18340524
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894064
Supporting Variants
Samples
Known GenesNAF1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=44
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787981
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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