A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003568



Internal ID7068673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:110713501..110718937hg38UCSC Ensembl
Outerchr9:113475781..113481217hg19UCSC Ensembl
Outerchr9:112515602..112521038hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg385437
hg195437
hg185437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563606
SamplesHuRef
Known GenesMUSK
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003568
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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