A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398649



Internal ID15245612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:86909211..86909219hg38UCSC Ensembl
Innerchr14:86909203..86909225hg38UCSC Ensembl
Outerchr14:86909195..86909235hg38UCSC Ensembl
chr14:87375555..87375563hg19UCSC Ensembl
Innerchr14:87375547..87375569hg19UCSC Ensembl
Outerchr14:87375539..87375579hg19UCSC Ensembl
chr14:86445308..86445316hg18UCSC Ensembl
Innerchr14:86445322..86445300hg18UCSC Ensembl
Outerchr14:86445292..86445332hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673078, essv8673077
SamplesNA19239, NA19240
Known GenesLOC283585
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398649
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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