A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441541



Internal ID15288494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44816097..44816895hg38UCSC Ensembl
Innerchr20:44816096..44816896hg38UCSC Ensembl
Outerchr20:44815097..44817895hg38UCSC Ensembl
chr20:43444738..43445536hg19UCSC Ensembl
Innerchr20:43444737..43445537hg19UCSC Ensembl
Outerchr20:43443738..43446536hg19UCSC Ensembl
chr20:42878152..42878950hg18UCSC Ensembl
Innerchr20:42878951..42878151hg18UCSC Ensembl
Outerchr20:42877152..42879950hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692548
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441541
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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