A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv432e212



Internal ID22783359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:759930..764765hg38UCSC Ensembl
chr12:869096..873931hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384836
hg194836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580010, esv3580013, esv3580012, esv3580018, esv3580009
Samples401180GR, 401102RD, 400287BP, 401033DJ, 400649PS, 400701MM, 401366WD, 400145BL, 400984LD, 400569WC, 400439IM, 400204SC, 401640WJ, 400821FE, 400634MP, 400554WB, 400432VA, 401275SJ, 400594VJ, 400094RS, 401503MJ, 402067KS, 400083TG, 401183HP, 401783BD, 401249TP, 401151RJ, 400899NK, 401721CP, 401093VL, 401603HH, 400059SV, 400948EV, 400643LD, 400658BW, 401390DG, 401173AI, 400893ZE, 402019MC, 402062KR, 401808PS, 402065BG, 400688FL, 401364NA, 401538NS, 401165SB, 401038LN, 400206SC, 402061PI, 401303FM, 401855RE, 401029SD, 400502GS, 400107MJ, 400186WC, 400060MC, 400733SW, 400929MM, 401726LW, 400663MD, 400302HW, 401331LJ, 401397WN, 402063WM, 401591BE, 400533BB, 401084TD, 400110MD, 401617KM, 401589HP, 400838AM, 400660GK, 400122PL, 400967PK, 401822TL, 400914ER, 401326LI, 401930GD, 401771OS, 400050RL, 401311GL, 400387HE, 400242TP, 401086MD, 400524NJ, 400248JO, 400598DA, 400135DR, 401677MM, 400444MM, 401334DH, 400624RJ, 400168HC, 401595BL, 400483DP, 400376SJ, 401611CD, 401661HD, 401438HT, 401314MK, 402008MC, 401100SJ, 400323AA, 401135CS, 400879DS, 401628GC, 401453OL, 400012CJ, 401480PG, 401254AE, 400243CK, 400234CA, 400645KM
Known GenesWNK1
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)dgv432e212
Frequency
Sample Size873
Observed Gain0
Observed Loss113
Observed Complex0
Frequencyn/a


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