A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9823059



Internal ID18668214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7036071..7051071hg38UCSC Ensembl
InnerchrX:6954112..6969112hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3815001
hg1915001
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576753
Supporting Variants
Samples401249TP
Known GenesHDHD1
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=32
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9823059
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer