A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2329e212



Internal ID22785256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:89363834..89392430hg38UCSC Ensembl
chrX:88618833..88647429hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3828597
hg1928597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3574155, esv3574157
Samples401292ER, 400984LD, 400558BL, 400523GB, 400121PL, 401198TI, 400333CC, 400843FL, 400738WM, 401591BE, 400791GC, 400375KA, 401318AV, 401619BT, 401017SC, 400695PH, 401616WP, 401334DH, 400818BL, 400458LS, 401054VM, 400261RN, 401993HM, 400269DA
Known Genes
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)dgv2329e212
Frequency
Sample Size873
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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