A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16492039



Internal ID19008913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4736047..4736047hg38UCSC Ensembl
chr17:4639342..4639342hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3669816
Supporting Variants
Samples
Known GenesCXCL16
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)essv16492039
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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