A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16484493



Internal ID19348053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36610274..36610365hg38UCSC Ensembl
chr22:37006321..37006412hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3661433
Supporting Variants
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)essv16484493
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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