A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387890



Internal ID15234859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57523854..57523890hg38UCSC Ensembl
Innerchr14:57523856..57523888hg38UCSC Ensembl
Outerchr14:57523852..57523892hg38UCSC Ensembl
chr14:57990572..57990608hg19UCSC Ensembl
Innerchr14:57990574..57990606hg19UCSC Ensembl
Outerchr14:57990570..57990610hg19UCSC Ensembl
chr14:57060325..57060361hg18UCSC Ensembl
Innerchr14:57060327..57060359hg18UCSC Ensembl
Outerchr14:57060323..57060363hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865736
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387890
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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