A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv477e214



Internal ID18980652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7688595..7782225hg38UCSC Ensembl
chr16:7738597..7832227hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3893631
hg1993631
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3637806, esv3637807
SamplesHG00356, NA19917
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv477e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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