A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663867



Internal ID9929972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15746359..15753569hg38UCSC Ensembl
chr12:15899293..15906503hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg387211
hg197211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5421389, essv5600160, essv5633820
SamplesNA19448, NA19451, NA19455
Known GenesEPS8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663867
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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