A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575022



Internal ID18356534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:153455009..153456267hg38UCSC Ensembl
InnerchrX:152720467..152721725hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9834059, essv9834063, essv9834060, essv9834062, essv9834058, essv9834061
Samples401457WK, 400583HS, 401475MK, 401943KA, 400271SR, 401482CB
Known GenesHAUS7
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3575022
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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