A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16477140



Internal ID19340700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118145982..118145982hg38UCSC Ensembl
chr11:118016697..118016697hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3653262
Supporting Variants
Samples
Known GenesSCN4B
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)essv16477140
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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