A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3661433



Internal ID19379441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36610274..36610365hg38UCSC Ensembl
chr22:37006321..37006412hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16484493
Samples
Known GenesCACNG2
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)esv3661433
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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