A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546697



Internal ID18401087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:93426806..93427962hg38UCSC Ensembl
Outerchr10:93426661..93428202hg38UCSC Ensembl
Innerchr10:95186563..95187719hg19UCSC Ensembl
Outerchr10:95186418..95187959hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg381542
hg191542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9745444
Samples
Known GenesMYOF
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546697
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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