A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306427



Internal ID14806689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31444314..31444315hg38UCSC Ensembl
Innerchr20:31444282..31444347hg38UCSC Ensembl
Outerchr20:31444281..31444348hg38UCSC Ensembl
chr20:30032117..30032118hg19UCSC Ensembl
Innerchr20:30032085..30032150hg19UCSC Ensembl
Outerchr20:30032084..30032151hg19UCSC Ensembl
chr20:29495778..29495779hg18UCSC Ensembl
Innerchr20:29495811..29495746hg18UCSC Ensembl
Outerchr20:29495745..29495812hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7763355, essv7752945, essv7756464, essv7754949, essv7756005
SamplesNA18523, NA18505, NA18912, NA19102, NA18907
Known GenesDEFB123
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306427
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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