A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007793



Internal ID1842688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:41606902..41615182hg19UCSC Ensembl
OuterchrX:41491846..41500126hg18UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg192329
hg182329
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3565509
SamplesHuRef
Known GenesCASK
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)esv1007793
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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