A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689985



Internal ID15022729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:32168030..32176128hg38UCSC Ensembl
Innerchr16:32169030..32175128hg38UCSC Ensembl
Outerchr16:32167030..32177128hg38UCSC Ensembl
chr16:32179351..32187449hg19UCSC Ensembl
Innerchr16:32180351..32186449hg19UCSC Ensembl
Outerchr16:32178351..32188449hg19UCSC Ensembl
chr16:32086852..32094950hg18UCSC Ensembl
Innerchr16:32087852..32093950hg18UCSC Ensembl
Outerchr16:32085852..32095950hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg388099
hg198099
hg188099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3392228
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689985
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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