A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv598e212



Internal ID22783525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22090601..22508831hg38UCSC Ensembl
chr14:22558878..22977816hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38418231
hg19418939
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583472, esv3583527, esv3583649, esv3583549, esv3583494, esv3583483, esv3583337, esv3583394, esv3583304, esv3583348, esv3582904, esv3583416, esv3583215, esv3583538, esv3583638, esv3583193, esv3582916, esv3583182, esv3583616, esv3583237, esv3583361, esv3583571, esv3583171, esv3583226, esv3583460, esv3583427, esv3583438, esv3583594, esv3583160, esv3583583, esv3583627, esv3583315, esv3583271, esv3583326, esv3583605, esv3583260, esv3583560, esv3583449, esv3583505, esv3583372, esv3583282, esv3582938, esv3583293, esv3583516, esv3583249, esv3582893, esv3583405
Samples400701MM, 400570RW, 400987FB, 401400NP, 400554WB, 400432VA, 400294HD, 401742KB, 400730SH, 400553PP, 401096SL, 401603HH, 401674DD, 400620MT, 401258PC, 401173AI, 400298ME, 400631SJ, 401364NA, 400460DM, 400307HW, 401495NR, 401238QR, 401234MB, 400733SW, 401377MA, 401732HW, 400983PV, 400763BT, 400383HL, 400533BB, 400040CN, 401026AM, 400122PL, 400043HC, 401504RJ, 401729AC, 400681MC, 401493HC, 401086MD, 401677MM, 400943DV, 400654YW, 401535RJ, 400158FB, 401844ZD, 401268PS, 400879DS, 400581VJ, 401453OL, 400982BS
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)dgv598e212
Frequency
Sample Size873
Observed Gain51
Observed Loss0
Observed Complex0
Frequencyn/a


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