A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574982



Internal ID18356494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:150876272..150877898hg38UCSC Ensembl
InnerchrX:150044745..150046371hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381627
hg191627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2528e212
Supporting Variantsessv9833777, essv9833779, essv9833776
Samples401691HA, 401067BD, 400508RD
Known GenesCD99L2
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)esv3574982
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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