A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757522



Internal ID18385082
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 StatusS
Merged Variantsesv3558775
Supporting Variants
Samples
Known GenesDMD
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757522
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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