A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424162



Internal ID15271119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109910240..109910253hg38UCSC Ensembl
Innerchr5:109910237..109910256hg38UCSC Ensembl
Outerchr5:109910224..109910269hg38UCSC Ensembl
chr5:109245941..109245954hg19UCSC Ensembl
Innerchr5:109245938..109245957hg19UCSC Ensembl
Outerchr5:109245925..109245970hg19UCSC Ensembl
chr5:109273840..109273853hg18UCSC Ensembl
Innerchr5:109273856..109273837hg18UCSC Ensembl
Outerchr5:109273824..109273869hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38233
hg19233
hg18233
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8926096, essv8926099, essv8926098, essv8926095, essv8926100, essv8926094, essv8926097, essv8926093
SamplesNA11829, NA18508, NA18489, NA11992, NA19099, NA18909, NA18501, NA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424162
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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