A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2280e212



Internal ID20150736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:38627366..38775361hg38UCSC Ensembl
chrX:38486619..38634614hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38147996
hg19147996
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576847, esv3576848
Samples400970VE, 400442FE
Known GenesTSPAN7
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv2280e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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