A curated catalogue of human genomic structural variation




Variant Details

Variant: esv785



Internal ID26316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134602537..135154741hg19UCSC Ensembl
chrX:134430203..134982407hg18UCSC Ensembl
chrX:134328057..134880261hg17UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV CNV
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variants
Samples
Known GenesCT45A1, CT45A2, CT45A3, CT45A4, CT45A5, CT45A6, DDX26B, MMGT1, SAGE1, SLC9A6
Method
AnalysisVariant regions only detected by both WGTP and 500k experimentation. CNV regions from each sample identified using the two platforms were merged into a single list of non-redundant CNV regions if they overlapped, regardless of the size of the overlap or the frequency with which the CNV is called on either platform.
PlatformAgilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP)
Comments
ReferenceRedon et al 2006
Pubmed ID17122850
Accession Number(s)esv785
Frequency
Sample Size271
Observed Gainn/a
Observed Lossn/a
Observed Complexn/a
Frequencyn/a


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