A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568739



Internal ID18696937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52997707..53004915hg38UCSC Ensembl
Innerchr3:53031723..53038931hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg387209
hg197209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1375e212
Supporting Variantsessv9766951, essv9766921, essv9766952, essv9766914, essv9766947, essv9766918, essv9766933, essv9766922, essv9766930, essv9766900, essv9766928, essv9766904, essv9766958, essv9766919, essv9766925, essv9766943, essv9766929, essv9766936, essv9766946, essv9766908, essv9766953, essv9766937, essv9766944, essv9766924, essv9766948, essv9766906, essv9766903, essv9766954, essv9766913, essv9766920, essv9766927, essv9766897, essv9766917, essv9766916, essv9766940, essv9766939, essv9766910, essv9766926, essv9766950, essv9766957, essv9766905, essv9766915, essv9766911, essv9766899, essv9766931, essv9766942, essv9766932, essv9766907, essv9766935, essv9766938, essv9766902, essv9766898, essv9766941, essv9766896, essv9766949, essv9766955, essv9766909, essv9766959
Samples400911GA, 400424LN, 401196CR, 401146US, 400455SJ, 401285HN, 400336BG, 401956DQ, 401380OL, 401972BA, 400272AE, 400866RR, 400068PW, 400506GN, 401457WK, 401931JL, 401856GC, 401721CP, 400545EW, 400493KH, 400658BW, 400360SM, 401258PC, 402064DC, 400427SD, 400206SC, 401532LJ, 401393JW, 400060MC, 401900RJ, 400533BB, 400064WJ, 401357MH, 400681MC, 400888MS, 401414CR, 400249BC, 400978JG, 400278PD, 401919MD, 400422PN, 401369GR, 400450FG, 40050SB, 400136DM, 400201PK, 400542EG, 401898DS, 400158FB, 400295PS, 401413RG, 400859SC, 400072GR, 401215MJ, 400164SS, 400238BB, 400982BS, 400269DA
Known GenesSFMBT1
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)esv3568739
Frequency
Sample Size873
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer