A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758637



Internal ID9634096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22282803..22760988hg38UCSC Ensembl
Innerchr16:22294124..22772309hg19UCSC Ensembl
Innerchr16:22201625..22679810hg18UCSC Ensembl
Innerchr16:22201625..22679810hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38478186
hg19478186
hg18478186
hg17478186
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758415, esv2757633
SamplesNA10859, NA18503, NA19142, NA19137, NA10831, NA19207, NA18870, NA18964, NA18863, NA19127, NA12043, NA19152, NA19194, NA12249, NA18861, NA18594, NA19192, NA18914, NA18871, NA12802, NA19222, NA18523, NA18952, NA07056, NA18966, NA19173, NA12752, NA18612, NA19209, NA18501, NA19093, NA19120, NA18500, NA10839, NA18550, NA19003, NA18859, NA19223, NA18545, NA18603, NA18516, NA12813, NA18953, NA18969, NA18573, NA18608, NA12005, NA18855, NA19144, NA19210, NA07348, NA10855, NA18860, NA07029, NA18524, NA18505, NA12044, NA19208, NA18506, NA18862, NA18943, NA18949, NA19143, NA19140, NA19161, NA18912, NA19211, NA18624, NA18508, NA18967, NA19239, NA12056, NA11840, NA07034, NA18854, NA11994, NA18635, NA12155, NA10846, NA12864, NA18563, NA07345, NA07357, NA18623, NA12762, NA12873, NA18991, NA12814, NA18636, NA18856, NA07048, NA18959, NA18609, NA18976, NA18637, NA11995, NA19100, NA12144, NA18970, NA12006, NA19000, NA12239, NA19153, NA12716, NA18515, NA19129, NA19172, NA19094, NA19103, NA06985, NA18968, NA19102, NA19238, NA19119, NA18558, NA19098, NA19154, NA12057, NA19139, NA18504, NA18978, NA18564, NA18961, NA18997, NA18562, NA19159, NA18974, NA18945, NA19145, NA11832, NA18999, NA10857, NA12146, NA18552, NA19138, NA10860, NA19101, NA19201, NA06991, NA18872, NA19128, NA12156, NA19116, NA18971, NA19132, NA10830, NA18577, NA19099, NA07022, NA11992, NA12003, NA19205, NA18852, NA11993, NA12248, NA18571, NA11829, NA12236, NA19130, NA19171, NA19240, NA12717, NA12874, NA18532, NA18853, NA19204, NA06994, NA18913, NA12760, NA19092, NA18555, NA19202, NA07000
Known GenesCDR2, EEF2K, LOC100190986, LOC653786, MIR548AA2, MIR548D2, NPIPB5, POLR3E, RRN3P3, SMG1P1
MethodBAC aCGH
SNP array
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).
The algorithm used to call CNVs using the 500K EA platform was developed to accurately define CNV regions using a large set of reference samples and is described in detail in a separate publication (Komura 2006). The algorithm contains three major parts: 1) Intensity pre-processing using an improved version of Genomic Imbalance Map (GIM) (Ishikawa et al. 2005), including probe selection, noise reduction, normalization, and intensity ratio adjustment based on affinity differences between alleles of a SNP, 2) CNV extraction, which identifies CNVs from all pair-wise comparisons using a modified SW-ARRAY, and 3) A copy number inference step which utilizes signal ratios and SNP information to more precisely define CNV boundaries and the copy number within each region.
PlatformAffymetrix GeneChip Early Access Mapping 500K Set Array (250K_Nsp_SNP)
Agilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2758637
Frequency
Sample Size270
Observed Gain151
Observed Loss22
Observed Complex0
Frequencyn/a


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