A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16470913



Internal ID19334473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42003398..42003398hg38UCSC Ensembl
chr6:41971136..41971136hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3686485
Supporting Variants
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)essv16470913
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer