A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309998



Internal ID14810263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:90317490..90317491hg38UCSC Ensembl
Innerchr7:90317456..90317525hg38UCSC Ensembl
Outerchr7:90317455..90317526hg38UCSC Ensembl
chr7:89946804..89946805hg19UCSC Ensembl
Innerchr7:89946770..89946839hg19UCSC Ensembl
Outerchr7:89946769..89946840hg19UCSC Ensembl
chr7:89784740..89784741hg18UCSC Ensembl
Innerchr7:89784775..89784706hg18UCSC Ensembl
Outerchr7:89784705..89784776hg18UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38209
hg19209
hg18209
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837924
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309998
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