A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16491691



Internal ID19355251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91669300..91669300hg38UCSC Ensembl
chr14:92135644..92135644hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3669430
Supporting Variants
Samples
Known GenesCATSPERB
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)essv16491691
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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