A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670748



Internal ID13730639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69820791..69825075hg38UCSC Ensembl
Innerchr16:69820807..69825059hg38UCSC Ensembl
Outerchr16:69820775..69825091hg38UCSC Ensembl
chr16:69854694..69858978hg19UCSC Ensembl
Innerchr16:69854710..69858962hg19UCSC Ensembl
Outerchr16:69854678..69858994hg19UCSC Ensembl
chr16:68412195..68416479hg18UCSC Ensembl
Innerchr16:68412211..68416463hg18UCSC Ensembl
Outerchr16:68412179..68416495hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384285
hg194285
hg184285
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3385130
Supporting Variants
SamplesNA12892
Known GenesWWP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670748
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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