A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573968



Internal ID18355480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:51825602..51828548hg38UCSC Ensembl
InnerchrX:51568698..51571644hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg382947
hg192947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9825795, essv9825796
Samples400108BJ, 400186WC
Known GenesMAGED1
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)esv3573968
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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