A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7842594



Internal ID14662116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216265174..216265175hg38UCSC Ensembl
Innerchr1:216265156..216265193hg38UCSC Ensembl
Outerchr1:216265155..216265194hg38UCSC Ensembl
chr1:216438516..216438517hg19UCSC Ensembl
Innerchr1:216438498..216438535hg19UCSC Ensembl
Outerchr1:216438497..216438536hg19UCSC Ensembl
chr1:214505139..214505140hg18UCSC Ensembl
Innerchr1:214505158..214505121hg18UCSC Ensembl
Outerchr1:214505120..214505159hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309838
Supporting Variants
SamplesNA19238
Known GenesUSH2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7842594
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