A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401118



Internal ID14901395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176871545..176873443hg38UCSC Ensembl
Innerchr5:176872443..176872545hg38UCSC Ensembl
Outerchr5:176870545..176874443hg38UCSC Ensembl
chr5:176298546..176300444hg19UCSC Ensembl
Innerchr5:176299444..176299546hg19UCSC Ensembl
Outerchr5:176297546..176301444hg19UCSC Ensembl
chr5:176231152..176233050hg18UCSC Ensembl
Innerchr5:176232152..176232050hg18UCSC Ensembl
Outerchr5:176230152..176234050hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3429e59
Supporting Variantsessv8694670
SamplesNA19239
Known GenesUNC5A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401118
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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