A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787814



Internal ID18819894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20889996..20925130hg38UCSC Ensembl
Innerchr14:21358155..21393289hg19UCSC Ensembl
Innerchr14:20427995..20463129hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3835135
hg1935135
hg1835135
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=10
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787814
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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