A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638632



Internal ID6678729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52533147..52624557hg38UCSC Ensembl
chr16:52567059..52658469hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3891411
hg1991411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15478688
SamplesHG01431
Known GenesCASC16, TOX3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638632
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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