A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690492



Internal ID14679311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89429043..89430741hg38UCSC Ensembl
Innerchr16:89429741..89430043hg38UCSC Ensembl
Outerchr16:89428043..89431741hg38UCSC Ensembl
chr16:89495451..89497149hg19UCSC Ensembl
Innerchr16:89496149..89496451hg19UCSC Ensembl
Outerchr16:89494451..89498149hg19UCSC Ensembl
chr16:88022952..88024650hg18UCSC Ensembl
Innerchr16:88023952..88023650hg18UCSC Ensembl
Outerchr16:88021952..88025650hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3370088
Supporting Variants
SamplesNA19238
Known GenesANKRD11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690492
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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