A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598835



Internal ID6972353
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11244294, essv11244301, essv11244303, essv11244302, essv11244288, essv11244290, essv11244295, essv11244293, essv11244298, essv11244289, essv11244296, essv11244299, essv11244292, essv11244291, essv11244300, essv11244297, essv11244304
SamplesHG01031, NA18999, HG00717, NA18597, HG03808, NA18642, HG00537, NA18614, HG02399, HG01811, NA19003, HG00476, HG00580, HG02179, NA18591, HG00662, HG02188
Known GenesPIK3CA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598835
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer