A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16474746



Internal ID19338306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:93345191..93345191hg38UCSC Ensembl
chr9:96107473..96107473hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3650603
Supporting Variants
Samples
Known GenesC9orf129
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)essv16474746
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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