A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15474435



Internal ID5053296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48904941..48930573hg38UCSC Ensembl
chr16:48938852..48964484hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3825633
hg1925633
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638584
Supporting Variants
SamplesNA18532
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15474435
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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