A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1498e212



Internal ID22784425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69524130..69536287hg38UCSC Ensembl
chr4:70389848..70402005hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3812158
hg1912158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569510, esv3569507, esv3569506, esv3569508
Samples401636WR, 400424LN, 400618GC, 400926LJ, 400889CM, 401074CM, 401384BP, 401949MN, 400199SA, 400277LM, 400425SL, 400155CW, 400298ME, 401281BP, 400882DD, 400022WA, 401566DD, 401104DM, 401596PJ, 400333CC, 401732HW, 400825TW, 401437MJ, 402033WD, 401968HL, 401771OS, 400705KK, 401075MN, 400047DS, 401067BD, 401711WS, 401922MW, 401359HF, 401677MM, 400624RJ, 400483DP, 400053LE, 401314MK, 401861GG, 401152MV, 400013TA, 400079AP, 401517PR, 400494ML, 401246HH, 401102RD
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)dgv1498e212
Frequency
Sample Size873
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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