A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3655683



Internal ID19373691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55428119..55428119hg38UCSC Ensembl
chr14:55894837..55894837hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16479318
Samples
Known GenesTBPL2
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)esv3655683
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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