A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11244288



Internal ID886547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179160798..179166176hg38UCSC Ensembl
Innerchr3:179160798..179166176hg38UCSC Ensembl
Outerchr3:179160452..179166475hg38UCSC Ensembl
chr3:178878586..178883964hg19UCSC Ensembl
Innerchr3:178878586..178883964hg19UCSC Ensembl
Outerchr3:178878240..178884263hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg385379
hg195379
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598835
Supporting Variants
SamplesHG00476
Known GenesPIK3CA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11244288
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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