A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15004529



Internal ID878699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47807756..47892313hg38UCSC Ensembl
chr14:48276959..48361516hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3884558
hg1984558
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634419
Supporting Variants
SamplesHG00472
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15004529
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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