A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634331



Internal ID7021134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:44543301..44606545hg38UCSC Ensembl
chr14:45012504..45075748hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3863245
hg1963245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15000530, essv15000531
SamplesNA19734, HG01775
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634331
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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