A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303064



Internal ID14803326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:98892726..98895943hg38UCSC Ensembl
Innerchr4:98892826..98895843hg38UCSC Ensembl
Outerchr4:98892626..98896043hg38UCSC Ensembl
chr4:99813877..99817094hg19UCSC Ensembl
Innerchr4:99813977..99816994hg19UCSC Ensembl
Outerchr4:99813777..99817194hg19UCSC Ensembl
chr4:100032900..100036117hg18UCSC Ensembl
Innerchr4:100033000..100036017hg18UCSC Ensembl
Outerchr4:100032800..100036217hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg383218
hg193218
hg183218
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7737782, essv7734397, essv7738260, essv7733591
SamplesNA11829, NA12155, NA07346, NA11994
Known GenesEIF4E
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303064
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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