A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003299



Internal ID29002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:153685148..153714589hg38UCSC Ensembl
InnerchrX:152950603..152980044hg19UCSC Ensembl
InnerchrX:152603797..152633238hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3829442
hg1929442
hg1829442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586495
SamplesHuRef
Known GenesBCAP31, SLC6A8
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003299
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer