A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16464037



Internal ID19327597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89933939..89934063hg38UCSC Ensembl
chr16:90000347..90000471hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3686204
Supporting Variants
Samples
Known GenesTUBB3
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)essv16464037
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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