A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16477439



Internal ID18994313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223115584..223115584hg38UCSC Ensembl
chr1:223288926..223288926hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3653595
Supporting Variants
Samples
Known GenesTLR5
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)essv16477439
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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