A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307268



Internal ID15154216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:166620800..166620801hg38UCSC Ensembl
Innerchr4:166620766..166620835hg38UCSC Ensembl
Outerchr4:166620765..166620836hg38UCSC Ensembl
chr4:167541951..167541952hg19UCSC Ensembl
Innerchr4:167541917..167541986hg19UCSC Ensembl
Outerchr4:167541916..167541987hg19UCSC Ensembl
chr4:167761401..167761402hg18UCSC Ensembl
Innerchr4:167761436..167761367hg18UCSC Ensembl
Outerchr4:167761366..167761437hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38254
hg19254
hg18254
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7741249, essv7758428, essv7759176, essv7741636
SamplesNA18502, NA18508, NA19210, NA18909
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307268
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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