A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578904



Internal ID18360416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55606543..55674829hg38UCSC Ensembl
Innerchr11:55374019..55442305hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3868287
hg1968287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv369e212
Supporting Variantsessv9797707, essv9797704, essv9797651, essv9797709, essv9797682, essv9797700, essv9797661, essv9797703, essv9797669, essv9797695, essv9797683, essv9797664, essv9797673, essv9797668, essv9797705, essv9797672, essv9797685, essv9797660, essv9797714, essv9797696, essv9797718, essv9797657, essv9797652, essv9797697, essv9797665, essv9797656, essv9797690, essv9797681, essv9797684, essv9797674, essv9797689, essv9797678, essv9797715, essv9797671, essv9797670, essv9797717, essv9797691, essv9797667, essv9797662, essv9797654, essv9797680, essv9797711, essv9797708, essv9797701, essv9797713, essv9797706, essv9797658
Samples401191MI, 400063BR, 400534ME, 400789KV, 401734PG, 401592NR, 401487FW, 400294HD, 400574MA, 401841OB, 401899MB, 401442WR, 400730SH, 401918CA, 400425SL, 400379BB, 401906DT, 400564SN, 401994BD, 400218WK, 400282RA, 400383HL, 400663MD, 401251WN, 401589HP, 400122PL, 401822TL, 401348RB, 401730MS, 401771OS, 400124FR, 400047DS, 400603CJ, 402074RR, 400721DJ, 400695PH, 401700BN, 400454RE, 401203MP, 400158FB, 400103BN, 400410CD, 402048WB, 401809FU, 400778SR, 400525MR, 400785AK
Known GenesOR4C6, OR4P4, OR4S2
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)esv3578904
Frequency
Sample Size873
Observed Gain47
Observed Loss0
Observed Complex0
Frequencyn/a


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