A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637566



Internal ID6677670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:296495..300305hg38UCSC Ensembl
chr16:346495..350305hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383811
hg193811
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15355206, essv15355205, essv15355208, essv15355204, essv15355207, essv15355209
SamplesNA19777, NA18616, HG03095, NA12761, HG03907, HG01799
Known GenesAXIN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637566
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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