A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556504



Internal ID18410894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48334432..48334484hg38UCSC Ensembl
chr19:48837689..48837741hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755251
Samples
Known GenesTMEM143
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556504
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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