A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790383



Internal ID19171966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68516362..68596581hg38UCSC Ensembl
Innerchr4:69382080..69462299hg19UCSC Ensembl
Innerchr4:69064675..69144894hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3880220
hg1980220
hg1880220
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893940
Supporting Variants
Samples
Known GenesUGT2B17
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=24
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790383
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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