A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9823180



Internal ID18326959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7323412..7331655hg38UCSC Ensembl
InnerchrX:7241453..7249696hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg388244
hg198244
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3573513
Supporting Variants
Samples401395OP
Known GenesSTS
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
CommentsNumber of probes=24
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9823180
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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