A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580010



Internal ID18708208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:759930..764326hg38UCSC Ensembl
Innerchr12:869096..873492hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384397
hg194397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv432e212
Supporting Variantsessv9799429, essv9799417, essv9799437, essv9799450, essv9799454, essv9799451, essv9799453, essv9799425, essv9799436, essv9799438, essv9799431, essv9799447, essv9799440, essv9799443, essv9799426, essv9799445, essv9799442, essv9799446, essv9799452, essv9799424, essv9799423, essv9799432, essv9799441, essv9799435, essv9799416, essv9799428, essv9799413, essv9799419, essv9799448, essv9799439, essv9799449, essv9799415, essv9799456, essv9799412, essv9799434, essv9799420, essv9799418, essv9799414, essv9799427, essv9799430
Samples401033DJ, 400649PS, 400701MM, 401640WJ, 400821FE, 400094RS, 401503MJ, 400083TG, 401183HP, 401783BD, 401249TP, 401151RJ, 401093VL, 400059SV, 401808PS, 402065BG, 400688FL, 401165SB, 400929MM, 401726LW, 400663MD, 401397WN, 402063WM, 401591BE, 401589HP, 400660GK, 401326LI, 401771OS, 400135DR, 400444MM, 401334DH, 400168HC, 400483DP, 400376SJ, 401438HT, 402008MC, 401135CS, 400879DS, 401628GC, 400234CA
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)esv3580010
Frequency
Sample Size873
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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