A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308353



Internal ID14808615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76072656..76072657hg38UCSC Ensembl
Innerchr4:76072639..76072674hg38UCSC Ensembl
Outerchr4:76072638..76072675hg38UCSC Ensembl
chr4:76993809..76993810hg19UCSC Ensembl
Innerchr4:76993792..76993827hg19UCSC Ensembl
Outerchr4:76993791..76993828hg19UCSC Ensembl
chr4:77212833..77212834hg18UCSC Ensembl
Innerchr4:77212851..77212816hg18UCSC Ensembl
Outerchr4:77212815..77212852hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38301
hg19301
hg18301
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7840418, essv7842992, essv7840737, essv7842078
SamplesNA19239, NA12891, NA12878, NA19240
Known GenesART3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308353
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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