A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9834284



Internal ID18655680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:155442773..155509839hg38UCSC Ensembl
InnerchrX:154672434..154739500hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3867067
hg1967067
Variant TypeCNV gain
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577575
Supporting Variants
Samples400854SG
Known GenesF8A1, F8A2, F8A3, H2AFB1, H2AFB2, H2AFB3, MIR1184-1, MIR1184-2, MIR1184-3, TMLHE, TMLHE-AS1
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=12
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9834284
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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