A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426863



Internal ID14927134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31444305..31444326hg38UCSC Ensembl
Innerchr20:31444314..31444317hg38UCSC Ensembl
Outerchr20:31444293..31444338hg38UCSC Ensembl
chr20:30032108..30032129hg19UCSC Ensembl
Innerchr20:30032117..30032120hg19UCSC Ensembl
Outerchr20:30032096..30032141hg19UCSC Ensembl
chr20:29495769..29495790hg18UCSC Ensembl
Innerchr20:29495781..29495778hg18UCSC Ensembl
Outerchr20:29495757..29495802hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8975795, essv8975798, essv8975797, essv8975796, essv8975794
SamplesNA18907, NA18912, NA18523, NA19102, NA18505
Known GenesDEFB123
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426863
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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