A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638540



Internal ID6678637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46678001..46738780hg38UCSC Ensembl
chr16:46711913..46772692hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3860780
hg1960780
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15472388
SamplesHG01841
Known GenesMYLK3, ORC6, VPS35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638540
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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