A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635480



Internal ID6675593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99145645..99269571hg38UCSC Ensembl
chr14:99611982..99735908hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38123927
hg19123927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15107070
SamplesNA06984
Known GenesBCL11B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635480
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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