A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988183



Internal ID7075454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103891356..103900537hg38UCSC Ensembl
OuterchrX:103146277..103155458hg19UCSC Ensembl
OuterchrX:103032933..103042114hg18UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg389182
hg199182
hg189182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565308
SamplesHuRef
Known GenesMIR1256
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988183
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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