A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2273e212



Internal ID22785200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:33094865..33098932hg38UCSC Ensembl
chrX:33112982..33117049hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg384068
hg194068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3573840, esv3573843, esv3573841
Samples400105BB, 400620MT, 400827MM, 401566DD, 400307HW, 401377MA, 400763BT, 400038CK, 401655DC, 400207HN, 400829MR, 400724CD, 400639RP, 400943DV, 401882CR, 400238BB, 400942HR
Known GenesDMD
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)dgv2273e212
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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