A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3356279



Internal ID15203259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150316596..150317794hg38UCSC Ensembl
Innerchr5:150316794..150317596hg38UCSC Ensembl
Outerchr5:150315596..150318794hg38UCSC Ensembl
chr5:149696159..149697357hg19UCSC Ensembl
Innerchr5:149696357..149697159hg19UCSC Ensembl
Outerchr5:149695159..149698357hg19UCSC Ensembl
chr5:149676352..149677550hg18UCSC Ensembl
Innerchr5:149677352..149676550hg18UCSC Ensembl
Outerchr5:149675352..149678550hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694610
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3356279
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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