A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2225e212



Internal ID20150681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13702940..13706889hg38UCSC Ensembl
chrX:13721059..13725008hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg383950
hg193950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576774, esv3576775, esv3576777, esv3576780, esv3576779, esv3576778
Samples400375KA, 400942HR, 401927SK, 400793BR, 401326LI, 401196CR, 402064DC, 402074RR, 400424LN, 401773AM, 401820SD, 400763BT, 401591BE
Known GenesRAB9A
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)dgv2225e212
Frequency
Sample Size873
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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