A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2759570

Internal ID9635029
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143450682..144671545hg38UCSC Ensembl
Innerchr7:143147775..144368638hg19UCSC Ensembl
Innerchr7:142857897..143999571hg18UCSC Ensembl
Innerchr7:142664612..143806286hg17UCSC Ensembl
Allele length
AssemblyAllele length
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).
Pubmed ID17122850
Accession Number(s)esv2759570
Sample Size270
Observed Gain114
Observed Loss140
Observed Complex0

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