A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998240



Internal ID7081643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:67757286..67762916hg38UCSC Ensembl
OuterchrX:66977128..66982758hg19UCSC Ensembl
OuterchrX:66893853..66899483hg18UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg382692
hg192692
hg182692
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563485
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998240
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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