A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370965



Internal ID14871224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37717079..37717101hg38UCSC Ensembl
Innerchr20:37717085..37717093hg38UCSC Ensembl
Outerchr20:37717063..37717115hg38UCSC Ensembl
chr20:36345481..36345503hg19UCSC Ensembl
Innerchr20:36345487..36345495hg19UCSC Ensembl
Outerchr20:36345465..36345517hg19UCSC Ensembl
chr20:35778895..35778917hg18UCSC Ensembl
Innerchr20:35778909..35778901hg18UCSC Ensembl
Outerchr20:35778879..35778931hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38237
hg19237
hg18237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8975835, essv8975839, essv8975838, essv8975834, essv8975836
SamplesNA18861, NA18489, NA18498, NA19225, NA19093
Known GenesCTNNBL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370965
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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