A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16465483



Internal ID19329043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3785177..3785229hg38UCSC Ensembl
chr20:3765824..3765876hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3662130
Supporting Variants
Samples
Known GenesCENPB
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)essv16465483
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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