A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv522e214



Internal ID22756416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54603937..54607136hg38UCSC Ensembl
chr16:54637849..54641048hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3638671, esv3638670
SamplesNA20802, NA19795
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv522e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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