A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572144



Internal ID18700342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:130711847..130714664hg38UCSC Ensembl
Innerchr7:130396676..130399492hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg382818
hg192817
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1960e212
Supporting Variantsessv9785051, essv9785039, essv9785021, essv9785026, essv9785015, essv9785032, essv9785004, essv9785003, essv9785019, essv9785041, essv9785059, essv9785005, essv9785031, essv9785018, essv9785024, essv9785038, essv9785056, essv9785040, essv9785045, essv9785017, essv9785050, essv9785053, essv9785027, essv9785058, essv9785009, essv9785046, essv9785030, essv9785013, essv9785049, essv9785014, essv9784998, essv9785043, essv9785029, essv9785010, essv9785054, essv9785028, essv9785035, essv9785020, essv9785016, essv9785006, essv9785037, essv9785025, essv9785057, essv9785008, essv9785047, essv9785002, essv9785060, essv9785034, essv9785012, essv9785007, essv9785048, essv9785023, essv9784999, essv9785001, essv9785042, essv9785036
Samples400287BP, 400570RW, 401196CR, 400439IM, 400094RS, 400626FC, 401460LW, 401972BA, 401491BB, 400325BE, 400641WJ, 400675HC, 400588BE, 401104DM, 402056KD, 401997HB, 400107MJ, 401646MC, 401234MB, 400793BR, 401050GS, 400302HW, 400974PS, 401870FB, 400110MD, 400955BE, 401617KM, 401589HP, 400240HJ, 401357MH, 401825TH, 401419SW, 400724CD, 400705KK, 400846MC, 401580CA, 400319HT, 400354TJ, 401778CB, 400474GF, 400788PV, 400624RJ, 401496SL, 400770MA, 400483DP, 400881GS, 401611CD, 401149VA, 400971MK, 400586RD, 401166WJ, 401809FU, 400323AA, 401154BR, 400661AD, 401510DG
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)esv3572144
Frequency
Sample Size873
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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