A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304914



Internal ID15151862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64108762..64108763hg38UCSC Ensembl
Innerchr14:64108740..64108785hg38UCSC Ensembl
Outerchr14:64108739..64108786hg38UCSC Ensembl
chr14:64575480..64575481hg19UCSC Ensembl
Innerchr14:64575458..64575503hg19UCSC Ensembl
Outerchr14:64575457..64575504hg19UCSC Ensembl
chr14:63645233..63645234hg18UCSC Ensembl
Innerchr14:63645256..63645211hg18UCSC Ensembl
Outerchr14:63645210..63645257hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7766264, essv7765303
SamplesNA12249, NA12873
Known GenesMIR548AZ, SYNE2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304914
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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