A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9834249



Internal ID18301589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:154820215..154899365hg38UCSC Ensembl
InnerchrX:154048490..154127640hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3879151
hg1979151
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577568
Supporting Variants
Samples400626FC
Known GenesF8, F8A1, F8A2, F8A3, H2AFB1, H2AFB2, H2AFB3, MIR1184-1, MIR1184-2, MIR1184-3, SMIM9
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=192
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9834249
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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