A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302955



Internal ID15149903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23066371..23066547hg38UCSC Ensembl
Innerchr14:23066459..23066459hg38UCSC Ensembl
Outerchr14:23066271..23066647hg38UCSC Ensembl
chr14:23535580..23535756hg19UCSC Ensembl
Innerchr14:23535668..23535668hg19UCSC Ensembl
Outerchr14:23535480..23535856hg19UCSC Ensembl
chr14:22605420..22605596hg18UCSC Ensembl
Innerchr14:22605508..22605508hg18UCSC Ensembl
Outerchr14:22605320..22605696hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38177
hg19177
hg18177
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7737611, essv7736213, essv7734062
SamplesNA19210, NA18871, NA18517
Known GenesACIN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302955
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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