A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689983



Internal ID15096807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:32167030..32175028hg38UCSC Ensembl
Innerchr16:32168030..32174028hg38UCSC Ensembl
Outerchr16:32166030..32176028hg38UCSC Ensembl
chr16:32178351..32186349hg19UCSC Ensembl
Innerchr16:32179351..32185349hg19UCSC Ensembl
Outerchr16:32177351..32187349hg19UCSC Ensembl
chr16:32085852..32093850hg18UCSC Ensembl
Innerchr16:32086852..32092850hg18UCSC Ensembl
Outerchr16:32084852..32094850hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387999
hg197999
hg187999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3400647
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689983
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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