A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385098



Internal ID14885380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89852643..89853041hg38UCSC Ensembl
Innerchr16:89852642..89853042hg38UCSC Ensembl
Outerchr16:89851643..89854041hg38UCSC Ensembl
chr16:89919051..89919449hg19UCSC Ensembl
Innerchr16:89919050..89919450hg19UCSC Ensembl
Outerchr16:89918051..89920449hg19UCSC Ensembl
chr16:88446552..88446950hg18UCSC Ensembl
Innerchr16:88446951..88446551hg18UCSC Ensembl
Outerchr16:88445552..88447950hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690493
SamplesNA19240
Known GenesSPIRE2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385098
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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