A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3684471



Internal ID19402479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81866385..81866670hg38UCSC Ensembl
chr16:81899990..81900275hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16463881
Samples
Known GenesPLCG2
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)esv3684471
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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