A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15528369



Internal ID2068746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:78025112..78042023hg38UCSC Ensembl
chr16:78059009..78075920hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3816912
hg1916912
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639187
Supporting Variants
SamplesHG01883
Known GenesCLEC3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15528369
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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