A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv518e214



Internal ID20121941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47223909..47493062hg38UCSC Ensembl
chr16:47257820..47526973hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38269154
hg19269154
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3638550, esv3638552
SamplesHG02375, HG01841
Known GenesITFG1, PHKB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv518e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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