A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310149



Internal ID15157100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:31974503..31974504hg38UCSC Ensembl
Innerchr4:31974435..31974572hg38UCSC Ensembl
Outerchr4:31974434..31974573hg38UCSC Ensembl
chr4:31976125..31976126hg19UCSC Ensembl
Innerchr4:31976057..31976194hg19UCSC Ensembl
Outerchr4:31976056..31976195hg19UCSC Ensembl
chr4:31620023..31620024hg18UCSC Ensembl
Innerchr4:31620092..31619955hg18UCSC Ensembl
Outerchr4:31619954..31620093hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38249
hg19249
hg18249
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838683, essv7837352
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310149
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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