A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330714



Internal ID15177704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184254331..184254414hg38UCSC Ensembl
Innerchr4:184254364..184254381hg38UCSC Ensembl
Outerchr4:184254281..184254464hg38UCSC Ensembl
chr4:185175484..185175567hg19UCSC Ensembl
Innerchr4:185175517..185175534hg19UCSC Ensembl
Outerchr4:185175434..185175617hg19UCSC Ensembl
chr4:185412478..185412561hg18UCSC Ensembl
Innerchr4:185412528..185412511hg18UCSC Ensembl
Outerchr4:185412428..185412611hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3884
hg1984
hg1884
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741112
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330714
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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