A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv476e214



Internal ID20121899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6628342..6820355hg38UCSC Ensembl
chr16:6678343..6870356hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38192014
hg19192014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3637754, esv3637755
SamplesNA20522, HG03237, HG00311
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv476e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer