A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2293e212



Internal ID20150749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:50907734..50947772hg38UCSC Ensembl
chrX:50650734..50690772hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3840039
hg1940039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3573966, esv3573965
Samples401079HJ, 401019MP
Known GenesBMP15
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)dgv2293e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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