A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303093



Internal ID15150041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123833348..123833957hg38UCSC Ensembl
Innerchr2:123833448..123833857hg38UCSC Ensembl
Outerchr2:123833248..123834057hg38UCSC Ensembl
chr2:124590925..124591534hg19UCSC Ensembl
Innerchr2:124591025..124591434hg19UCSC Ensembl
Outerchr2:124590825..124591634hg19UCSC Ensembl
chr2:124307395..124308004hg18UCSC Ensembl
Innerchr2:124307495..124307904hg18UCSC Ensembl
Outerchr2:124307295..124308104hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38610
hg19610
hg18610
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7738695, essv7732556
SamplesNA18510, NA19108
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303093
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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