A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8936300



Internal ID12802363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:90317497..90317517hg38UCSC Ensembl
Innerchr7:90317494..90317518hg38UCSC Ensembl
Outerchr7:90317476..90317538hg38UCSC Ensembl
chr7:89946811..89946831hg19UCSC Ensembl
Innerchr7:89946808..89946832hg19UCSC Ensembl
Outerchr7:89946790..89946852hg19UCSC Ensembl
chr7:89784747..89784767hg18UCSC Ensembl
Innerchr7:89784768..89784744hg18UCSC Ensembl
Outerchr7:89784726..89784788hg18UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3344570
Supporting Variants
SamplesNA11831
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8936300
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