A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3666042



Internal ID19384050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40579423..40579423hg38UCSC Ensembl
chr4:40581440..40581440hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16488641
Samples
Known GenesRBM47
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)esv3666042
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