A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9832430



Internal ID18686502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:139726692..140260434hg38UCSC Ensembl
InnerchrX:138808851..139342599hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38533743
hg19533749
Variant TypeCNV gain
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577426
Supporting Variants
Samples401797LS
Known GenesATP11C, CXorf66, LOC389895, MIR505
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=1752
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9832430
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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