A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16479100



Internal ID19342660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24036744..24036744hg38UCSC Ensembl
chr14:24505953..24505953hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3655439
Supporting Variants
Samples
Known GenesDHRS4L1
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)essv16479100
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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