A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678086



Internal ID9597505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92333878..92336226hg38UCSC Ensembl
chr14:92800222..92802570hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg382349
hg192349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5960100
SamplesNA19172
Known GenesSLC24A4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678086
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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