A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3357381



Internal ID15204361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56788412..56788868hg38UCSC Ensembl
Innerchr20:56788582..56788695hg38UCSC Ensembl
Outerchr20:56788239..56789038hg38UCSC Ensembl
chr20:55363468..55363924hg19UCSC Ensembl
Innerchr20:55363638..55363751hg19UCSC Ensembl
Outerchr20:55363295..55364094hg19UCSC Ensembl
chr20:54796875..54797331hg18UCSC Ensembl
Innerchr20:54797045..54797158hg18UCSC Ensembl
Outerchr20:54796702..54797501hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38457
hg19457
hg18457
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670957, essv8670956, essv8670958
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3357381
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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