A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15114323



Internal ID971053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103355100..103368526hg38UCSC Ensembl
chr14:103821437..103834863hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3813427
hg1913427
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635590
Supporting Variants
SamplesHG00598
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15114323
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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