A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv291e212



Internal ID22783218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122581900..122598038hg38UCSC Ensembl
chr10:124341416..124357554hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3816139
hg1916139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579187, esv3579154, esv3579199, esv3579162, esv3579189, esv3579203, esv3579158, esv3579190, esv3579182, esv3579169, esv3579186, esv3579188, esv3579198, esv3579159, esv3579171, esv3579185, esv3579175
Samples400618GC, 400789KV, 400889CM, 40031BA, 400970VE, 400899NK, 400077EB, 401820SD, 401857VG, 401030GI, 400493KH, 400718PS, 401832MC, 400032RC, 400533BB, 401736BF, 401594MP, 401652HL, 401771OS, 401606CG, 400171BJ, 400888MS, 401443JK, 401847RK, 400410CD, 400971MK, 400205SP, 402008MC, 401829FJ, 400106PC, 402023EC, 400581VJ, 400238BB, 400801HS
Known GenesDMBT1
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)dgv291e212
Frequency
Sample Size873
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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