A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003299



Internal ID1861242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:152950603..152980044hg19UCSC Ensembl
InnerchrX:152603797..152633238hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg1929442
hg1829442
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3586495
SamplesHuRef
Known GenesBCAP31, SLC6A8
Method
Analysis
PlatformSanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003299
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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