A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3670504



Internal ID19041826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32814324..32814324hg38UCSC Ensembl
chr22:33210310..33210310hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16492658
Samples
Known GenesSYN3, TIMP3
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)esv3670504
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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