A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638187



Internal ID6678285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21599042..21731573hg38UCSC Ensembl
chr16:21610363..21742894hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38132532
hg19132532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15416340, essv15416341
SamplesNA18976, NA18517
Known GenesIGSF6, METTL9, OTOA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638187
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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