A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16463743



Internal ID19327303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48966789..48966874hg38UCSC Ensembl
chr16:49000700..49000785hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3682938
Supporting Variants
Samples
Known Genes
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)essv16463743
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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