A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577009



Internal ID18358521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:103917015..103981754hg38UCSC Ensembl
InnerchrX:103171609..103236332hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg3864740
hg1964724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2355e212
Supporting Variantsessv9828065, essv9828067, essv9828064, essv9828063, essv9828068, essv9828069
Samples400852WJ, 400076LC, 400171BJ, 400971MK, 400130HA, 401362ME
Known GenesH2BFXP, MIR1256, TMSB15B
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)esv3577009
Frequency
Sample Size873
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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