A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16474037



Internal ID19337597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103999643..103999771hg38UCSC Ensembl
chr14:104465980..104466108hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3649815
Supporting Variants
Samples
Known GenesTDRD9
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)essv16474037
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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