A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380244



Internal ID15227216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:80215520..80215536hg38UCSC Ensembl
Innerchr4:80215520..80215534hg38UCSC Ensembl
Outerchr4:80215504..80215552hg38UCSC Ensembl
chr4:81136674..81136690hg19UCSC Ensembl
Innerchr4:81136674..81136688hg19UCSC Ensembl
Outerchr4:81136658..81136706hg19UCSC Ensembl
chr4:81355698..81355714hg18UCSC Ensembl
Innerchr4:81355712..81355698hg18UCSC Ensembl
Outerchr4:81355682..81355730hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38212
hg19212
hg18212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8919613, essv8919616, essv8919617, essv8919615, essv8919618
SamplesNA12828, NA10847, NA12003, NA07051, NA07037
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380244
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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