A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3686486



Internal ID19404494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42003938..42003938hg38UCSC Ensembl
chr6:41971676..41971676hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16470914
Samples
Known GenesCCND3
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)esv3686486
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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