A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3324040



Internal ID15171017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129231273..129231357hg38UCSC Ensembl
Innerchr3:129231254..129231374hg38UCSC Ensembl
Outerchr3:129231170..129231460hg38UCSC Ensembl
chr3:128950116..128950200hg19UCSC Ensembl
Innerchr3:128950097..128950217hg19UCSC Ensembl
Outerchr3:128950013..128950303hg19UCSC Ensembl
chr3:130432806..130432890hg18UCSC Ensembl
Innerchr3:130432907..130432787hg18UCSC Ensembl
Outerchr3:130432703..130432993hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38127
hg19127
hg18127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8915480, essv8915472, essv8915473, essv8915484, essv8915479, essv8915476, essv8915482, essv8915475, essv8915478, essv8915483, essv8915474, essv8915485, essv8915477
SamplesNA18861, NA18508, NA10851, NA18916, NA18973, NA18951, NA12489, NA19114, NA19225, NA18945, NA19108, NA18952, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3324040
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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