A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788191



Internal ID18822008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20889996..20937726hg38UCSC Ensembl
Innerchr14:21358155..21405885hg19UCSC Ensembl
Innerchr14:20427995..20475725hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3847731
hg1947731
hg1847731
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892467
Supporting Variants
Samples
Known GenesECRP, RNASE3
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788191
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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