A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558769



Internal ID18413159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:32390385..32390469hg38UCSC Ensembl
chrX:32408502..32408586hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757516
Samples
Known GenesDMD
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558769
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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