A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv230e215



Internal ID22785740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55530440..55530821hg38UCSC Ensembl
chr19:56041807..56042188hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3556653, esv3556652
Samples
Known GenesSBK2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv230e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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