A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780922



Internal ID18819514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68568777..68709989hg38UCSC Ensembl
Innerchr4:69434495..69575707hg19UCSC Ensembl
Innerchr4:69117090..69258302hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38141213
hg19141213
hg18141213
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893946
Supporting Variants
Samples
Known GenesUGT2B15
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=35
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780922
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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