A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787883



Internal ID18826866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:114765597..115116964hg38UCSC Ensembl
Innerchr2:115523174..115874541hg19UCSC Ensembl
Innerchr2:115239644..115591011hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38351368
hg19351368
hg18351368
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893148
Supporting Variants
Samples
Known GenesDPP10
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=58
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787883
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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