A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390516



Internal ID15237483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150978307..150978317hg38UCSC Ensembl
Innerchr5:150978299..150978325hg38UCSC Ensembl
Outerchr5:150978286..150978335hg38UCSC Ensembl
chr5:150357869..150357879hg19UCSC Ensembl
Innerchr5:150357861..150357887hg19UCSC Ensembl
Outerchr5:150357848..150357897hg19UCSC Ensembl
chr5:150338062..150338072hg18UCSC Ensembl
Innerchr5:150338080..150338054hg18UCSC Ensembl
Outerchr5:150338041..150338090hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38259
hg19259
hg18259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675824, essv8675823
SamplesNA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390516
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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