A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3374423



Internal ID15221398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43550668..43550708hg38UCSC Ensembl
Innerchr3:43550669..43550705hg38UCSC Ensembl
Outerchr3:43550629..43550745hg38UCSC Ensembl
chr3:43592160..43592200hg19UCSC Ensembl
Innerchr3:43592161..43592197hg19UCSC Ensembl
Outerchr3:43592121..43592237hg19UCSC Ensembl
chr3:43567164..43567204hg18UCSC Ensembl
Innerchr3:43567201..43567165hg18UCSC Ensembl
Outerchr3:43567125..43567241hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38192
hg19192
hg18192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8912966, essv8912960, essv8912965, essv8912963, essv8912964, essv8912961, essv8912962
SamplesNA18502, NA18861, NA18507, NA18489, NA18856, NA18853, NA19108
Known GenesANO10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3374423
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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