A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634428



Internal ID7021231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48203763..48214147hg38UCSC Ensembl
chr14:48672966..48683350hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3810385
hg1910385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15004548, essv15004547
SamplesHG02070, HG02401
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634428
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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