A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15472435



Internal ID5474251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47463995..47559918hg38UCSC Ensembl
chr16:47497906..47593829hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3895924
hg1995924
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638561
Supporting Variants
SamplesNA18967
Known GenesPHKB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15472435
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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