A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15005180



Internal ID5919091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49476455..49517795hg38UCSC Ensembl
chr14:49943173..49984513hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3841341
hg1941341
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634464
Supporting Variants
SamplesNA19328
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15005180
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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