A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000302



Internal ID6712448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:153881712..153883282hg38UCSC Ensembl
InnerchrX:153147167..153148737hg19UCSC Ensembl
InnerchrX:152800361..152801931hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381571
hg191571
hg181571
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586861
SamplesHuRef
Known GenesL1CAM
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000302
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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