A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv280e215



Internal ID19010071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45152267..45152321hg38UCSC Ensembl
chr21:46572182..46572236hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3557836, esv3559767
Samples
Known GenesADARB1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv280e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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