A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15364738



Internal ID5366554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6024156..6092410hg38UCSC Ensembl
chr16:6074157..6142411hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3868255
hg1968255
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637738
Supporting Variants
SamplesHG03943
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15364738
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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