A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16491634



Internal ID19008509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36680005..36680005hg38UCSC Ensembl
chr14:37149210..37149210hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3669367
Supporting Variants
Samples
Known GenesSLC25A21
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)essv16491634
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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