A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2317e212



Internal ID19009525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:77693435..77694855hg38UCSC Ensembl
chrX:76948924..76950344hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381421
hg191421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3574096, esv3574100, esv3574098
Samples401266HM, 400534ME, 400800MW, 401104DM, 400999HR, 400354TJ, 400583HS, 400732MA, 401616WP, 401698SB, 400455SJ
Known GenesATRX
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)dgv2317e212
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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