A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413759



Internal ID14914032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88728443..88729941hg38UCSC Ensembl
Innerchr16:88728941..88729443hg38UCSC Ensembl
Outerchr16:88727443..88730941hg38UCSC Ensembl
chr16:88794851..88796349hg19UCSC Ensembl
Innerchr16:88795349..88795851hg19UCSC Ensembl
Outerchr16:88793851..88797349hg19UCSC Ensembl
chr16:87322352..87323850hg18UCSC Ensembl
Innerchr16:87323352..87322850hg18UCSC Ensembl
Outerchr16:87321352..87324850hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690481
SamplesNA19239
Known GenesPIEZO1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413759
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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