A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3650988



Internal ID19368996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133447335..133447335hg38UCSC Ensembl
chr9:136312456..136312456hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16475093
Samples
Known GenesADAMTS13
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)esv3650988
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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