A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3685291



Internal ID19056613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81415911..81415911hg38UCSC Ensembl
chr5:80711730..80711730hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16469839
Samples
Known GenesRNU5D-1, RNU5E-1
MethodSequencing
Analysisde novo assemblies produced from SoapDenovo2 were aligned to GRC37 using LAST and input into SoapAsmVar for population-wide structural variation detection. The method is described in the publication
PlatformIllumina HiSeq 2000
Comments
ReferenceBesenbacher_et_al_2015
Pubmed ID25597990
Accession Number(s)esv3685291
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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