A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6370591



Internal ID9347994
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
SamplesNA18596
Known GenesFKBP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6370591
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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