A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16479328



Internal ID19342888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56139950..56139950hg38UCSC Ensembl
chr14:56606668..56606668hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3655694
Supporting Variants
Samples
Known GenesPELI2
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)essv16479328
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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