A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665360



Internal ID9584779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110675172..110676740hg38UCSC Ensembl
chr9:113437452..113439020hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg381569
hg191569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6504851, essv6485180, essv6009993
SamplesNA19394, NA19704, NA19462
Known GenesMUSK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665360
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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