A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3452152



Internal ID14952411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:25913530..25914828hg38UCSC Ensembl
Innerchr16:25913828..25914530hg38UCSC Ensembl
Outerchr16:25912530..25915828hg38UCSC Ensembl
chr16:25924851..25926149hg19UCSC Ensembl
Innerchr16:25925149..25925851hg19UCSC Ensembl
Outerchr16:25923851..25927149hg19UCSC Ensembl
chr16:25832352..25833650hg18UCSC Ensembl
Innerchr16:25833352..25832650hg18UCSC Ensembl
Outerchr16:25831352..25834650hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689915
SamplesNA19239
Known GenesHS3ST4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3452152
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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