A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv2355e212

Internal ID19009563
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103917015..103988627hg38UCSC Ensembl
chrX:103171609..103243203hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577014, esv3577012, esv3577015, esv3577009
Samples400130HA, 400076LC, 400971MK, 400171BJ, 400267GD, 401207DA, 400852WJ, 401362ME, 401113MJ
Known GenesH2BFXP, MIR1256, TMSB15B
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
Pubmed ID25503493
Accession Number(s)dgv2355e212
Sample Size873
Observed Gain9
Observed Loss0
Observed Complex0

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