A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787927



Internal ID19178693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10093095..10170448hg38UCSC Ensembl
Innerchr1:10153153..10230506hg19UCSC Ensembl
Innerchr1:10075740..10153093hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3877354
hg1977354
hg1877354
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890748
Supporting Variants
Samples
Known GenesUBE4B
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=15
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787927
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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