A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3655831



Internal ID19373839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73480726..73480726hg38UCSC Ensembl
chr14:73947431..73947431hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16479451
Samples
Known GenesHEATR4
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)esv3655831
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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