A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678227



Internal ID9597646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:96657806..96660927hg38UCSC Ensembl
chr10:98417563..98420684hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg383122
hg193122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5606897
SamplesNA19401
Known GenesPIK3AP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678227
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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