A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3656542



Internal ID19374550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:66339211..66339211hg38UCSC Ensembl
chr15:66631549..66631549hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16480092
Samples
Known GenesTIPIN
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)esv3656542
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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