A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5471463



Internal ID8448866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31137680..31139688hg38UCSC Ensembl
chrX:31155797..31157805hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg382009
hg192009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661363
Supporting Variants
SamplesNA18874
Known GenesDMD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5471463
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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