A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689113



Internal ID15089864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18223524..18281273hg38UCSC Ensembl
Innerchr14:18224475..18280273hg38UCSC Ensembl
Outerchr14:18223524..18282273hg38UCSC Ensembl
chr14:19000001..19057750hg19UCSC Ensembl
Innerchr14:19000952..19056750hg19UCSC Ensembl
Outerchr14:19000001..19058750hg19UCSC Ensembl
chr14:18069952..18127750hg18UCSC Ensembl
Innerchr14:18070952..18126750hg18UCSC Ensembl
Outerchr14:18068952..18128750hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3857750
hg1957750
hg1857799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3447787
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689113
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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