A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659099



Internal ID9925204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179160825..179166095hg38UCSC Ensembl
chr3:178878613..178883883hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg385271
hg195271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5703621, essv6414844, essv6584093, essv6069612, essv6298951, essv5806597, essv6072237, essv6209613
SamplesNA18999, NA18597, HG00537, NA18614, NA19003, HG00476, HG00580, HG00662
Known GenesPIK3CA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659099
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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