A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401406



Internal ID15248369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:100871361..100871717hg38UCSC Ensembl
Innerchr5:100871499..100871579hg38UCSC Ensembl
Outerchr5:100871223..100871855hg38UCSC Ensembl
chr5:100207065..100207421hg19UCSC Ensembl
Innerchr5:100207203..100207283hg19UCSC Ensembl
Outerchr5:100206927..100207559hg19UCSC Ensembl
chr5:100234964..100235320hg18UCSC Ensembl
Innerchr5:100235102..100235182hg18UCSC Ensembl
Outerchr5:100234826..100235458hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38357
hg19357
hg18357
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671254, essv8671253, essv8671255
SamplesNA19238, NA19239, NA19240
Known GenesST8SIA4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401406
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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