A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv478e199



Internal ID18982532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6645899..6647852hg38UCSC Ensembl
chr16:6695900..6697853hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381954
hg191954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2666540, esv2660918
SamplesNA19002
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv478e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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