A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555853



Internal ID18410243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1992068..1992147hg38UCSC Ensembl
chr19:1992067..1992146hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754600
Samples
Known GenesBTBD2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555853
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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