A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442507



Internal ID14942774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114322451..114330049hg38UCSC Ensembl
Innerchr9:114323451..114329049hg38UCSC Ensembl
Outerchr9:114321451..114331049hg38UCSC Ensembl
chr9:117084731..117092329hg19UCSC Ensembl
Innerchr9:117085731..117091329hg19UCSC Ensembl
Outerchr9:117083731..117093329hg19UCSC Ensembl
chr9:116124552..116132150hg18UCSC Ensembl
Innerchr9:116125552..116131150hg18UCSC Ensembl
Outerchr9:116123552..116133150hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg387599
hg197599
hg187599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696514
SamplesNA12892
Known GenesORM1, ORM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442507
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