A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574266



Internal ID18355778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:102225791..102338270hg38UCSC Ensembl
InnerchrX:101480784..101593193hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38112480
hg19112410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2351e212
Supporting Variantsessv9827973, essv9827969, essv9827972, essv9827970, essv9827971
Samples400911GA, 400007RG, 401594MP, 401606CG, 401608GE
Known GenesNXF2, NXF2B, TCP11X2
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)esv3574266
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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