A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15556044



Internal ID5165459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87944553..87949679hg38UCSC Ensembl
chr16:87978159..87983285hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg385127
hg195127
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639538
Supporting Variants
SamplesNA18596
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15556044
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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