A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558775



Internal ID18413165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:32969330..32970743hg38UCSC Ensembl
OuterchrX:32969154..32971119hg38UCSC Ensembl
InnerchrX:32987447..32988860hg19UCSC Ensembl
OuterchrX:32987271..32989236hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg381966
hg191966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757522
Samples
Known GenesDMD
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558775
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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