A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3667208



Internal ID19385216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131986945..131986945hg38UCSC Ensembl
chr5:131322638..131322638hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16489691
Samples
Known GenesACSL6
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)esv3667208
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer