A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666928



Internal ID9933033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79281056..79281684hg38UCSC Ensembl
chr14:79747399..79748027hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38629
hg19629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5823253, essv6443716, essv6078418, essv6283014, essv6116666, essv6466948, essv5488598
SamplesHG00271, HG00178, NA19114, NA19835, HG00342, NA18873, NA18622
Known GenesNRXN3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666928
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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