A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690429



Internal ID13730988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:74363853..74365151hg38UCSC Ensembl
Innerchr16:74364151..74364853hg38UCSC Ensembl
Outerchr16:74362853..74366151hg38UCSC Ensembl
chr16:74397751..74399049hg19UCSC Ensembl
Innerchr16:74398049..74398751hg19UCSC Ensembl
Outerchr16:74396751..74400049hg19UCSC Ensembl
chr16:72955252..72956550hg18UCSC Ensembl
Innerchr16:72956252..72955550hg18UCSC Ensembl
Outerchr16:72954252..72957550hg18UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395224
Supporting Variants
SamplesNA12892
Known GenesLOC283922
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690429
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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