A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759354



Internal ID9634813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:94429500..94706496hg38UCSC Ensembl
Innerchr5:93765205..94042201hg19UCSC Ensembl
Innerchr5:93790961..94067957hg18UCSC Ensembl
Innerchr5:93790961..94067957hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38276997
hg19276997
hg18276997
hg17276997
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).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2759354
Frequency
Sample Size270
Observed Gain0
Observed Loss139
Observed Complex0
Frequencyn/a


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