A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv502e212



Internal ID20148958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99401677..99404943hg38UCSC Ensembl
chr12:99795455..99798721hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383267
hg193267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580396, esv3580397, esv3580398, esv3580401, esv3580393, esv3580404
Samples400520FM, 400427SD, 401146US, 400238BB, 400768MN, 401674DD, 400375KA, 400843FL, 401491BB, 400300SD, 400782IE, 401673DM, 400471YS, 401495NR, 401607LL, 402009WP, 400558BL, 400641WJ, 400416KA, 400132HN, 400076LC, 400629BM, 401966SR, 400068PW, 401285HN, 400093BL, 400681MC, 400047DS, 400234CA, 400213DB, 401355CD, 401183HP, 401453OL, 400996MC, 401196CR, 400482MD, 402016HZ, 401630MK, 401924ST, 400460DM, 400897MD, 401303FM, 401480PG, 401725MR, 401403TD, 402038MR, 401314MK, 401506LK, 402064DC, 401348RB, 401013GJ, 400282RA, 400014SL, 401554VN, 400686BM, 401540NA, 400994HJ, 400033KC, 401764JJ, 400594VJ, 401820SD, 400248JO, 400704LC, 401357MH, 401695BT, 400320RN, 401795SP, 401730MS, 401496SL, 401940SJ, 401817MC, 401277RA, 401847RK, 400022WA, 401288LD, 400295PS, 400413FJ, 401133JG, 401616WP, 401331LJ, 400974PS, 401576WC, 401153HS, 400674CA, 400432VA, 401087SF, 402001SR, 401862AN, 401113MJ, 401813DN, 400245SJ, 401084TD
Known GenesANKS1B
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)dgv502e212
Frequency
Sample Size873
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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