A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9823254



Internal ID18296827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7596710..8167603hg38UCSC Ensembl
InnerchrX:7514751..8135644hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38570894
hg19620894
Variant TypeCNV gain
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576758
Supporting Variants
Samples400508RD
Known GenesMIR651, PNPLA4, VCX
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=1040
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9823254
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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