A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6485180



Internal ID9462583
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 StatusS
Merged Variantsesv2665360
Supporting Variants
SamplesNA19704
Known GenesMUSK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6485180
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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