A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16469891



Internal ID18986765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90492861..90492861hg38UCSC Ensembl
chr5:89788678..89788678hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3685349
Supporting Variants
Samples
Known GenesPOLR3G
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)essv16469891
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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