A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5442515



Internal ID8419919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45126264..45128111hg38UCSC Ensembl
chr14:45595467..45597314hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg381848
hg191848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2667757
Supporting Variants
SamplesNA19004
Known GenesFKBP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5442515
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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