A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412775



Internal ID14913048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79503364..79505962hg38UCSC Ensembl
Innerchr18:79504364..79504962hg38UCSC Ensembl
Outerchr18:79502364..79506962hg38UCSC Ensembl
chr18:77263364..77265962hg19UCSC Ensembl
Innerchr18:77264364..77264962hg19UCSC Ensembl
Outerchr18:77262364..77266962hg19UCSC Ensembl
chr18:75364352..75366950hg18UCSC Ensembl
Innerchr18:75365352..75365950hg18UCSC Ensembl
Outerchr18:75363352..75367950hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691360
SamplesNA19239
Known GenesNFATC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412775
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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