A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308530



Internal ID14808793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75670779..75670780hg38UCSC Ensembl
Innerchr4:75670746..75670813hg38UCSC Ensembl
Outerchr4:75670745..75670814hg38UCSC Ensembl
chr4:76595963..76595964hg19UCSC Ensembl
Innerchr4:76595930..76595997hg19UCSC Ensembl
Outerchr4:76595929..76595998hg19UCSC Ensembl
chr4:76814987..76814988hg18UCSC Ensembl
Innerchr4:76815021..76814954hg18UCSC Ensembl
Outerchr4:76814953..76815022hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38106
hg19106
hg18106
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836835, essv7838373
SamplesNA19239, NA12891
Known GenesG3BP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308530
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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