A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3354213



Internal ID15201194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68895220..68895233hg38UCSC Ensembl
Innerchr5:68895217..68895236hg38UCSC Ensembl
Outerchr5:68895204..68895249hg38UCSC Ensembl
chr5:68191047..68191060hg19UCSC Ensembl
Innerchr5:68191044..68191063hg19UCSC Ensembl
Outerchr5:68191031..68191076hg19UCSC Ensembl
chr5:68226803..68226816hg18UCSC Ensembl
Innerchr5:68226819..68226800hg18UCSC Ensembl
Outerchr5:68226787..68226832hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38253
hg19253
hg18253
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8924796, essv8924793, essv8924795, essv8924788, essv8924791, essv8924794, essv8924789, essv8924790, essv8924797
SamplesNA18519, NA18907, NA18853, NA18523, NA19108, NA18517, NA19116, NA18511, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3354213
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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