A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759570



Internal ID9635029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143450682..144671545hg38UCSC Ensembl
Innerchr7:143147775..144368638hg19UCSC Ensembl
Innerchr7:142857897..143999571hg18UCSC Ensembl
Innerchr7:142664612..143806286hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381220864
hg191220864
hg181141675
hg171141675
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758138
SamplesNA18503, NA19142, NA19012, NA19137, NA10831, NA18621, NA19207, NA18870, NA12154, NA18863, NA19127, NA12043, NA19152, NA19194, NA12249, NA18861, NA12750, NA18594, NA18951, NA19192, NA18914, NA18871, NA12802, NA19222, NA18561, NA18523, NA18975, NA07056, NA18966, NA19173, NA12752, NA18612, NA19209, NA19093, NA19120, NA18500, NA18526, NA10839, NA18570, NA19003, NA12264, NA18859, NA19223, NA12815, NA10847, NA18545, NA18603, NA18948, NA18516, NA12707, NA12813, NA19203, NA18521, NA18529, NA18969, NA18972, NA18517, NA18947, NA18573, NA18608, NA12005, NA18855, NA19144, NA19210, NA18507, NA18860, NA18994, NA07029, NA18524, NA18505, NA12044, NA19208, NA18506, NA18862, NA18943, NA19143, NA10863, NA18632, NA19140, NA19161, NA12763, NA18912, NA19211, NA18998, NA18624, NA18508, NA18967, NA19239, NA12056, NA11839, NA11840, NA07034, NA12004, NA18854, NA18566, NA18635, NA12155, NA18576, NA18622, NA10846, NA18563, NA07345, NA18623, NA12762, NA12873, NA18990, NA18592, NA18856, NA07048, NA18959, NA18609, NA18547, NA11831, NA18976, NA18973, NA11995, NA18593, NA19100, NA12144, NA18970, NA12006, NA19000, NA19153, NA12716, NA18537, NA18620, NA18515, NA19129, NA19172, NA18633, NA18572, NA19094, NA19103, NA06985, NA19206, NA18968, NA19102, NA18522, NA19238, NA18502, NA19119, NA18558, NA19098, NA19154, NA10856, NA19139, NA12872, NA18978, NA18564, NA18858, NA18942, NA18961, NA18997, NA19221, NA19131, NA18945, NA19141, NA18940, NA19145, NA11832, NA12891, NA18987, NA18999, NA10857, NA18552, NA19138, NA10860, NA19101, NA19201, NA19193, NA18872, NA19128, NA12812, NA18857, NA12156, NA19116, NA18971, NA19132, NA19099, NA07022, NA11830, NA11992, NA12003, NA19205, NA10838, NA19160, NA18611, NA11829, NA19130, NA19171, NA19240, NA12717, NA12874, NA18853, NA19204, NA06994, NA18913, NA12760, NA19092, NA18555, NA19200, NA19007, NA19202, NA18980, NA10854, NA10861
Known GenesARHGEF34P, ARHGEF35, ARHGEF5, CTAGE15, CTAGE4, CTAGE6, CTAGE8, EPHA1-AS1, FAM115A, FAM115C, LOC154761, NOBOX, OR2A1, OR2A12, OR2A14, OR2A2, OR2A20P, OR2A25, OR2A42, OR2A5, OR2A7, OR2A9P, OR2F1, OR2F2, OR6B1, RNU6-57P, TAS2R41, TPK1
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)esv2759570
Frequency
Sample Size270
Observed Gain114
Observed Loss140
Observed Complex0
Frequencyn/a


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