A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3661296



Internal ID19379304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32565056..32565154hg38UCSC Ensembl
chr22:32961042..32961140hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16484370
Samples
Known GenesSYN3
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)esv3661296
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer