A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660647



Internal ID9926752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229969587..229973586hg38UCSC Ensembl
Outerchr2:229969550..229973636hg38UCSC Ensembl
Innerchr2:230834303..230838302hg19UCSC Ensembl
Outerchr2:230834266..230838352hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg384087
hg194087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5658491, essv6522758, essv5617744
SamplesHG00179, HG00124, HG00119
Known GenesFBXO36
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660647
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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