A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2398e212



Internal ID22785325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120336755..120339651hg38UCSC Ensembl
chrX:119470610..119473506hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg382897
hg192897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3574438, esv3574435, esv3574436, esv3574440, esv3574439, esv3574437, esv3574442
Samples400908PJ, 400063BR, 401856GC, 401674DD, 400620MT, 401936BA, 401551MB, 401672FD, 401831TW, 401791FG, 401406KF, 400870KC, 401125LM, 401652HL, 401444LD, 401812HG, 401086MD, 400450FG, 401677MM, 401595BL, 401693RC, 401054VM, 401438HT, 400859SC, 401265CB, 400719TM, 400150SS
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)dgv2398e212
Frequency
Sample Size873
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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