A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638553



Internal ID6678650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47263433..47493062hg38UCSC Ensembl
chr16:47297344..47526973hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38229630
hg19229630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15472411
SamplesNA18967
Known GenesITFG1, PHKB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638553
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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