A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15503750



Internal ID5505566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69738369..69799862hg38UCSC Ensembl
chr16:69772272..69833765hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3861494
hg1961494
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638931
Supporting Variants
SamplesHG02079
Known GenesNOB1, WWP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15503750
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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