A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994960



Internal ID7079495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:110714847..110716869hg38UCSC Ensembl
Innerchr9:113477127..113479149hg19UCSC Ensembl
Innerchr9:112516948..112518970hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg382023
hg192023
hg182023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3587132
SamplesHuRef
Known GenesMUSK
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994960
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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