A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689984



Internal ID15055982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:32167630..32175428hg38UCSC Ensembl
Innerchr16:32168630..32174428hg38UCSC Ensembl
Outerchr16:32166630..32176428hg38UCSC Ensembl
chr16:32178951..32186749hg19UCSC Ensembl
Innerchr16:32179951..32185749hg19UCSC Ensembl
Outerchr16:32177951..32187749hg19UCSC Ensembl
chr16:32086452..32094250hg18UCSC Ensembl
Innerchr16:32087452..32093250hg18UCSC Ensembl
Outerchr16:32085452..32095250hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387799
hg197799
hg187799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3408261
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689984
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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