A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv689n145



Internal ID22813705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47151692..47162057hg38UCSC Ensembl
chr20:45780331..45790696hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3810366
hg1910366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3118064, nsv3110872
Samplessample382, sample80, sample182, sample171, sample369, sample52, sample345, sample96, sample419, sample140, sample403, sample387, sample130, sample43, sample197, sample210, sample107, sample259, sample89, sample371, sample162, sample386
Known GenesEYA2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv689n145
Frequency
Sample Size467
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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