A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9826534



Internal ID18306955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:77918356..77921145hg38UCSC Ensembl
InnerchrX:77173853..77176642hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg382790
hg192790
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3574103
Supporting Variants
Samples400793BR
Known GenesATP7A
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=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9826534
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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