A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2759354

Internal ID9634813
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:94429500..94706496hg38UCSC Ensembl
Innerchr5:93765205..94042201hg19UCSC Ensembl
Innerchr5:93790961..94067957hg18UCSC Ensembl
Innerchr5:93790961..94067957hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758002
SamplesNA19142, NA19137, NA10831, NA18621, NA19207, NA18863, NA19127, NA19194, NA18861, NA12750, NA18594, NA12802, NA12801, NA18952, NA18975, NA07056, NA18966, NA19173, NA18612, NA19209, NA18500, NA18570, NA18859, NA19223, NA12815, NA10847, NA18545, NA18603, NA18948, NA12813, NA18521, NA18953, NA18969, NA18972, NA18573, NA18608, NA12005, NA18855, NA19144, NA19210, NA18507, NA07029, NA18965, NA18505, NA12044, NA19208, NA18506, NA19143, NA10863, NA19140, NA19161, NA12763, NA18912, NA19211, NA18508, NA18967, NA12056, NA11840, NA18854, NA11994, NA18635, NA12155, NA18576, NA18960, NA10846, NA12864, NA18563, NA18623, NA12762, NA12873, NA18991, NA12814, NA18636, NA12740, NA07048, NA18956, NA18609, NA18976, NA18637, NA11995, NA19100, NA12234, NA12144, NA18970, NA12006, NA12239, NA18537, NA18620, NA19129, NA18633, NA19094, NA19103, NA06985, NA18968, NA18558, NA19098, NA19154, NA12057, NA19139, NA18858, NA18961, NA18540, NA19221, NA19159, NA18579, NA18945, NA18940, NA19145, NA11832, NA18999, NA10857, NA18552, NA19138, NA10860, NA18995, NA19128, NA12812, NA12156, NA10835, NA18971, NA10830, NA11830, NA12003, NA18944, NA19205, NA10838, NA18852, NA11993, NA19160, NA18571, NA19171, NA18532, NA18853, NA18981, NA18913, NA12760, NA18555, NA19202, NA07000
Known GenesANKRD32, KIAA0825
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)esv2759354
Sample Size270
Observed Gain0
Observed Loss139
Observed Complex0

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