A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759222



Internal ID9634681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8520446..10274843hg38UCSC Ensembl
Innerchr4:8522173..10276467hg19UCSC Ensembl
Innerchr4:8573073..9885565hg18UCSC Ensembl
Innerchr4:8640244..9952736hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381754398
hg191754295
hg181312493
hg171312493
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757920, esv2757035, esv2757037, esv2757034, esv2757036
SamplesNA18503, NA19142, NA19012, NA19137, NA10831, NA18621, NA19207, NA18870, NA18964, NA12154, NA18863, NA19127, NA19152, NA19194, NA18861, NA18605, NA12750, NA18951, NA19192, NA18914, NA18871, NA18561, NA12801, NA18523, NA18952, NA18975, NA07056, NA18966, NA19173, NA12752, NA12875, NA18612, NA19209, NA18501, NA19093, NA18500, NA18526, NA10839, NA18570, NA19003, NA18859, NA19223, NA10847, NA18545, NA18603, NA18516, NA12707, NA12813, NA06993, NA19203, NA18521, NA18529, NA18953, NA18969, NA18972, NA18947, NA18608, NA18542, NA07019, NA12005, NA18855, NA19144, NA07348, NA18507, NA10855, NA18860, NA18994, NA18524, NA18965, NA18505, NA19208, NA18506, NA18862, NA18943, NA18949, NA19143, NA18632, NA12865, NA19140, NA11882, NA19161, NA12763, NA18912, NA19211, NA18998, NA18624, NA18508, NA18967, NA19239, NA18992, NA11840, NA12753, NA07034, NA18854, NA18566, NA11994, NA12155, NA18622, NA18960, NA10846, NA12864, NA18563, NA07357, NA18990, NA18991, NA12814, NA18592, NA18856, NA07048, NA12761, NA18959, NA18609, NA18547, NA18976, NA18637, NA18973, NA11995, NA18593, NA19100, NA12234, NA12144, NA18970, NA12751, NA12006, NA19000, NA12239, NA19153, NA18537, NA18620, NA18515, NA19129, NA19172, NA12892, NA18633, NA18572, NA19094, NA19103, NA06985, NA18968, NA19102, NA18522, NA19238, NA19005, NA18502, NA18558, NA19098, NA19154, NA10856, NA19139, NA18504, NA18978, NA18858, NA18961, NA18997, NA19221, NA18562, NA19131, NA19159, NA18945, NA19141, NA18940, NA19145, NA11832, NA18987, NA18582, NA18999, NA10857, NA12146, NA07055, NA18552, NA19138, NA10860, NA19101, NA19201, NA18995, NA06991, NA19193, NA18872, NA19128, NA12812, NA18857, NA12156, NA10835, NA18971, NA19132, NA10830, NA18577, NA19099, NA07022, NA11830, NA11992, NA12003, NA18944, NA19205, NA10838, NA18852, NA11993, NA19160, NA12248, NA18571, NA18611, NA11829, NA19130, NA19171, NA19240, NA12717, NA12874, NA18532, NA18853, NA19204, NA18981, NA06994, NA18913, NA12760, NA19092, NA18555, NA19200, NA19007, NA19202, NA07000, NA18980, NA10854, NA10861
Known GenesCPZ, DEFB131, DRD5, GPR78, HMX1, LOC650293, MIR3138, MIR548I2, SLC2A9, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P, WDR1
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)esv2759222
Frequency
Sample Size270
Observed Gain221
Observed Loss9
Observed Complex0
Frequencyn/a


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