A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550317



Internal ID18751393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Cytoband13q13.3
Allele length
AssemblyAllele length
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv101e215
Supporting Variantsessv9749064
Samples
Known GenesCCDC169, CCDC169-SOHLH2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550317
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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