A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16476845



Internal ID18993719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73953689..73953689hg38UCSC Ensembl
chr11:73664734..73664734hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3652935
Supporting Variants
Samples
Known GenesDNAJB13
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)essv16476845
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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