A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008198



Internal ID7073292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167202512..167206991hg38UCSC Ensembl
Outerchr1:167171749..167176228hg19UCSC Ensembl
Outerchr1:165438373..165442852hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg386040
hg196040
hg186040
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565163
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008198
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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