A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16480534



Internal ID18997408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14442640..14442640hg38UCSC Ensembl
chr16:14536497..14536497hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3657034
Supporting Variants
Samples
Known GenesPARN
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)essv16480534
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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