A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16482427



Internal ID19345987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21204133..21204193hg38UCSC Ensembl
chr20:21184772..21184832hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3659137
Supporting Variants
Samples
Known GenesPLK1S1
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)essv16482427
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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