A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360598



Internal ID15207577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146279862..146279880hg38UCSC Ensembl
Innerchr3:146279862..146279878hg38UCSC Ensembl
Outerchr3:146279844..146279898hg38UCSC Ensembl
chr3:145997649..145997667hg19UCSC Ensembl
Innerchr3:145997649..145997665hg19UCSC Ensembl
Outerchr3:145997631..145997685hg19UCSC Ensembl
chr3:147480339..147480357hg18UCSC Ensembl
Innerchr3:147480355..147480339hg18UCSC Ensembl
Outerchr3:147480321..147480375hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38268
hg19268
hg18268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8915821, essv8915828, essv8915822, essv8915827, essv8915826, essv8915823, essv8915824
SamplesNA18507, NA18870, NA18489, NA12003, NA18871, NA18499, NA19257
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360598
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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