A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674140



Internal ID9940245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50520093..50523040hg38UCSC Ensembl
chr14:50986811..50989758hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg382948
hg192948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5418033
SamplesHG01440
Known GenesMAP4K5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674140
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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