A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639349



Internal ID6679443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82089507..82148922hg38UCSC Ensembl
chr16:82123112..82182527hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3859416
hg1959416
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15538035
SamplesHG04061
Known GenesHSD17B2, MPHOSPH6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639349
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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