A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689471



Internal ID13700542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19915153..19924151hg38UCSC Ensembl
Innerchr14:19916153..19923151hg38UCSC Ensembl
Outerchr14:19914153..19925151hg38UCSC Ensembl
chr14:20383312..20392310hg19UCSC Ensembl
Innerchr14:20384312..20391310hg19UCSC Ensembl
Outerchr14:20382312..20393310hg19UCSC Ensembl
chr14:19453152..19462150hg18UCSC Ensembl
Innerchr14:19454152..19461150hg18UCSC Ensembl
Outerchr14:19452152..19463150hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg388999
hg198999
hg188999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3436264
Supporting Variants
SamplesNA12891
Known GenesOR4K5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689471
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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