A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689956



Internal ID14675791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30223430..30227128hg38UCSC Ensembl
Innerchr16:30224430..30226128hg38UCSC Ensembl
Outerchr16:30222430..30228128hg38UCSC Ensembl
chr16:30234751..30238449hg19UCSC Ensembl
Innerchr16:30235751..30237449hg19UCSC Ensembl
Outerchr16:30233751..30239449hg19UCSC Ensembl
chr16:30142252..30145950hg18UCSC Ensembl
Innerchr16:30143252..30144950hg18UCSC Ensembl
Outerchr16:30141252..30146950hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383699
hg193699
hg183699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3333024
Supporting Variants
SamplesNA19238
Known GenesLOC613037
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689956
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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