A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349435



Internal ID14849700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:6018383..6019981hg38UCSC Ensembl
Innerchr10:6018981..6019383hg38UCSC Ensembl
Outerchr10:6017383..6020981hg38UCSC Ensembl
chr10:6060346..6061944hg19UCSC Ensembl
Innerchr10:6060944..6061346hg19UCSC Ensembl
Outerchr10:6059346..6062944hg19UCSC Ensembl
chr10:6100352..6101950hg18UCSC Ensembl
Innerchr10:6101352..6100950hg18UCSC Ensembl
Outerchr10:6099352..6102950hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688126
SamplesNA19239
Known GenesIL2RA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349435
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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