A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689114



Internal ID13724215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18223524..18281473hg38UCSC Ensembl
Innerchr14:18224475..18280473hg38UCSC Ensembl
Outerchr14:18223524..18282473hg38UCSC Ensembl
chr14:19000001..19057950hg19UCSC Ensembl
Innerchr14:19000952..19056950hg19UCSC Ensembl
Outerchr14:19000001..19058950hg19UCSC Ensembl
chr14:18069952..18127950hg18UCSC Ensembl
Innerchr14:18070952..18126950hg18UCSC Ensembl
Outerchr14:18068952..18128950hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3857950
hg1957950
hg1857999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3376720
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689114
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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