A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3666276



Internal ID19037598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70716845..70716845hg38UCSC Ensembl
chr4:71582562..71582562hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16488852
Samples
Known GenesRUFY3
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)esv3666276
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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