A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302943



Internal ID14803205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13653845..13653945hg38UCSC Ensembl
Innerchr10:13653895..13653895hg38UCSC Ensembl
Outerchr10:13653745..13654045hg38UCSC Ensembl
chr10:13695845..13695945hg19UCSC Ensembl
Innerchr10:13695895..13695895hg19UCSC Ensembl
Outerchr10:13695745..13696045hg19UCSC Ensembl
chr10:13735851..13735951hg18UCSC Ensembl
Innerchr10:13735901..13735901hg18UCSC Ensembl
Outerchr10:13735751..13736051hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38101
hg19101
hg18101
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7734863, essv7734082, essv7732005, essv7736118, essv7732738
SamplesNA18870, NA19093, NA18517, NA18916, NA19225
Known GenesFRMD4A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302943
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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