A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661146



Internal ID9927251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67397040..67425328hg38UCSC Ensembl
Innerchr14:67863757..67892045hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3828289
hg1928289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6133865, essv6426607, essv6074992
SamplesNA19238, NA19239, NA19240
Known GenesPLEK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661146
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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