A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330125



Internal ID14830402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54021399..54021418hg38UCSC Ensembl
Innerchr20:54021395..54021422hg38UCSC Ensembl
Outerchr20:54021376..54021441hg38UCSC Ensembl
chr20:52637938..52637957hg19UCSC Ensembl
Innerchr20:52637934..52637961hg19UCSC Ensembl
Outerchr20:52637915..52637980hg19UCSC Ensembl
chr20:52071345..52071364hg18UCSC Ensembl
Innerchr20:52071368..52071341hg18UCSC Ensembl
Outerchr20:52071322..52071387hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9679169, essv9679180, essv9679202, essv9679191
SamplesNA12249, NA19143, NA11840, NA12874
Known GenesBCAS1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330125
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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