A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758806



Internal ID9634265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63470996..63745014hg38UCSC Ensembl
Innerchr20:62102349..62376367hg19UCSC Ensembl
Innerchr20:61572793..61846811hg18UCSC Ensembl
Innerchr20:61572793..61846811hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38274019
hg19274019
hg18274019
hg17274019
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758526
SamplesNA19141, NA19222, NA11830, NA11829, NA19204, NA18861, NA12814, NA18980, NA18855, NA12236, NA19145, NA18603, NA18504, NA12248, NA12865, NA10857, NA19098, NA12750, NA12155, NA07357, NA19127, NA19192, NA19171, NA18944, NA19201, NA10835, NA10846, NA10854, NA18558, NA11992, NA18571, NA12762, NA18964, NA18970, NA07019, NA12156, NA12044, NA19128, NA18966, NA12815, NA19159, NA10855, NA19209, NA10839, NA19200, NA10847, NA12760, NA12752, NA19194, NA12753, NA12003, NA10863, NA10831, NA12872, NA19161, NA18859, NA19205, NA18529, NA19103, NA18976, NA18503, NA11839, NA18981, NA12234, NA19202, NA18537, NA18566, NA18573, NA19142, NA11840, NA10830, NA18856, NA12249, NA18912, NA19154, NA18853, NA12264, NA12145, NA19099, NA12707, NA19101, NA07345, NA12144, NA18523, NA10856, NA18945, NA19094, NA18914, NA12716, NA18863, NA12057, NA18913, NA19100, NA12873, NA19144, NA07348, NA18501, NA12740, NA19093, NA18500, NA18609, NA19102, NA12875, NA18854, NA18852, NA07056, NA18505, NA19129, NA12006, NA07000, NA18522, NA12154, NA19153, NA11832, NA18620, NA18997
Known GenesARFRP1, C20orf195, EEF1A2, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PTK6, RTEL1, RTEL1-TNFRSF6B, SLC2A4RG, SRMS, STMN3, TNFRSF6B, ZBTB46, ZGPAT
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)esv2758806
Frequency
Sample Size270
Observed Gain3
Observed Loss113
Observed Complex0
Frequencyn/a


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