A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7737611



Internal ID14994417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23066459..23066460hg38UCSC Ensembl
Outerchr14:23066272..23066647hg38UCSC Ensembl
Innerchr14:23535668..23535669hg19UCSC Ensembl
Outerchr14:23535481..23535856hg19UCSC Ensembl
Innerchr14:22605509..22605508hg18UCSC Ensembl
Outerchr14:22605321..22605696hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38376
hg19376
hg18376
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302955
Supporting Variants
SamplesNA19210
Known GenesACIN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7737611
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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