A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv224e215



Internal ID20151263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44969743..44971108hg38UCSC Ensembl
chr19:45473000..45474365hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381366
hg191366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3556454, esv3556457
Samples
Known GenesCLPTM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv224e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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