A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739504



Internal ID5050236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:604711..604965hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv6790992
SamplesSSM070
Known GenesSHOX
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2739504
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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