A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757757



Internal ID9633216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161436523..161654637hg38UCSC Ensembl
Innerchr1:161406313..161624427hg19UCSC Ensembl
Innerchr1:159672937..159891051hg18UCSC Ensembl
Innerchr1:158219386..158356094hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38218115
hg19218115
hg18218115
hg17136709
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758972
Supporting Variantsessv1272, essv18299, essv23331, essv14065, essv17557, essv10477, essv21054, essv16057, essv11683, essv5100, essv17813, essv18223, essv15421, essv15673, essv11103, essv4427, essv20064, essv14778, essv17275, essv10647, essv17001, essv11916, essv11780, essv5158, essv16874, essv10931, essv24898, essv9697, essv6135, essv18997, essv6976, essv3062, essv11983, essv4254, essv22505, essv2094, essv24071, essv19431, essv16539, essv13149, essv4022, essv12247, essv19576, essv15853, essv10382, essv7196, essv17626, essv8308, essv9341, essv8368, essv15042, essv12766, essv25008, essv11430, essv8113
SamplesNA18502, NA19222, NA19203, NA18861, NA18855, NA18603, NA18504, NA12750, NA10846, NA18995, NA18547, NA07048, NA18582, NA12762, NA18949, NA12005, NA18970, NA19159, NA19209, NA10839, NA19210, NA12753, NA10831, NA18515, NA19205, NA19103, NA18503, NA18981, NA18573, NA11840, NA18912, NA19154, NA18857, NA18532, NA18853, NA19101, NA18858, NA18914, NA11882, NA19206, NA06991, NA18517, NA12864, NA18564, NA12057, NA10859, NA18913, NA19144, NA18501, NA06994, NA19223, NA19211, NA19102, NA19129, NA18577
Known GenesFCGR2A, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2757757
Frequency
Sample Size270
Observed Gain2
Observed Loss53
Observed Complex0
Frequencyn/a


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