A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv475e214



Internal ID18980650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6014803..6113010hg38UCSC Ensembl
chr16:6064804..6163011hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3898208
hg1998208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3637737, esv3637736
SamplesHG03943, NA19434, NA19452
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv475e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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