A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575048



Internal ID18703246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:154729063..154734984hg38UCSC Ensembl
InnerchrX:153957338..153963259hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg385922
hg195922
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2544e212
Supporting Variantsessv9834180, essv9834181
Samples400294HD, 401842BJ
Known GenesGAB3
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)esv3575048
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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