A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303042



Internal ID15149990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100479872..100480123hg38UCSC Ensembl
Innerchr13:100479972..100480023hg38UCSC Ensembl
Outerchr13:100479772..100480223hg38UCSC Ensembl
chr13:101132126..101132377hg19UCSC Ensembl
Innerchr13:101132226..101132277hg19UCSC Ensembl
Outerchr13:101132026..101132477hg19UCSC Ensembl
chr13:99930127..99930378hg18UCSC Ensembl
Innerchr13:99930227..99930278hg18UCSC Ensembl
Outerchr13:99930027..99930478hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38252
hg19252
hg18252
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7736196, essv7734855, essv7739120, essv7734402, essv7735310, essv7736220, essv7735200, essv7732385, essv7737903, essv7738078, essv7736332, essv7732803, essv7738705, essv7735729, essv7734072, essv7737200, essv7736515, essv7732318, essv7732054, essv7733000, essv7736441, essv7731920, essv7737866, essv7732536, essv7736473, essv7737426, essv7736397, essv7735978
SamplesNA18502, NA18861, NA18504, NA19190, NA18870, NA18510, NA12155, NA18519, NA11992, NA18498, NA19137, NA10847, NA12489, NA18871, NA18856, NA19099, NA19225, NA18909, NA19108, NA19147, NA18517, NA06986, NA18501, NA12749, NA19102, NA18552, NA18511, NA18562
Known GenesPCCA, PCCA-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303042
Frequency
Sample Size185
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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