A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441504



Internal ID6364838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29401122..29419575hg38UCSC Ensembl
chr16:29412443..29430896hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3818454
hg1918454
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638362
Supporting Variants
SamplesNA20296
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441504
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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