A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395224



Internal ID15242188
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 StatusM
Merged Variants
Supporting Variantsessv8690429
SamplesNA12892
Known GenesLOC283922
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395224
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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