A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15103484



Internal ID5105300
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635417
Supporting Variants
SamplesNA06984
Known GenesBDKRB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15103484
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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