A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3686399



Internal ID19404407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:33393748..33393748hg38UCSC Ensembl
chr6:33361525..33361525hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16470836
Samples
Known GenesKIFC1
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)esv3686399
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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