A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418079



Internal ID14918351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94148711..94148737hg38UCSC Ensembl
Innerchr8:94148716..94148732hg38UCSC Ensembl
Outerchr8:94148706..94148742hg38UCSC Ensembl
chr8:95160939..95160965hg19UCSC Ensembl
Innerchr8:95160944..95160960hg19UCSC Ensembl
Outerchr8:95160934..95160970hg19UCSC Ensembl
chr8:95230115..95230141hg18UCSC Ensembl
Innerchr8:95230120..95230136hg18UCSC Ensembl
Outerchr8:95230110..95230146hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864874
SamplesNA12005
Known GenesCDH17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418079
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