A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635417



Internal ID6675530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96186480..96223406hg38UCSC Ensembl
chr14:96652817..96689743hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3836927
hg1936927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15103484
SamplesNA06984
Known GenesBDKRB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635417
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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