A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3681908



Internal ID19399916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20380562..20380618hg38UCSC Ensembl
chr14:20848721..20848777hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16502921
Samples
Known GenesTEP1
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)esv3681908
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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