A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553136



Internal ID18407526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12943310..12943366hg38UCSC Ensembl
chr16:13037167..13037223hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751883
Samples
Known GenesSHISA9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553136
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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