A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759794



Internal ID9635253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:409846..1336162hg38UCSC Ensembl
Innerchr11:409846..1357392hg19UCSC Ensembl
Innerchr11:399846..1313968hg18UCSC Ensembl
Innerchr11:399846..1313968hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38926317
hg19947547
hg18914123
hg17914123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758250
SamplesNA10859, NA19142, NA19137, NA10831, NA11881, NA18621, NA18870, NA18964, NA12154, NA18863, NA19194, NA12249, NA18861, NA12750, NA18594, NA18951, NA19192, NA18914, NA18871, NA12801, NA18523, NA18952, NA18975, NA07056, NA18966, NA19173, NA12752, NA18612, NA18501, NA19120, NA18500, NA10839, NA12815, NA10847, NA18545, NA18948, NA12707, NA12813, NA19203, NA18969, NA18573, NA18608, NA18542, NA07019, NA12005, NA18855, NA19210, NA07348, NA18994, NA18524, NA18965, NA18505, NA12044, NA19208, NA18506, NA18862, NA19143, NA12865, NA19140, NA11882, NA19161, NA12763, NA18912, NA19211, NA18508, NA18967, NA19239, NA12056, NA18992, NA12753, NA07034, NA18854, NA11994, NA12155, NA18576, NA18960, NA10846, NA12864, NA18563, NA07345, NA07357, NA12873, NA18636, NA07048, NA18959, NA18609, NA18547, NA18976, NA18637, NA18973, NA11995, NA19100, NA12144, NA18970, NA12006, NA19000, NA12239, NA12716, NA18537, NA18620, NA19129, NA19172, NA12892, NA18633, NA19094, NA19103, NA18968, NA19005, NA18558, NA19154, NA10856, NA12872, NA18504, NA18978, NA18564, NA18858, NA18961, NA18997, NA19131, NA18579, NA18940, NA19145, NA11832, NA12891, NA10857, NA18552, NA10860, NA19101, NA19201, NA18995, NA06991, NA18872, NA19128, NA18857, NA12156, NA10835, NA18971, NA10830, NA19099, NA07022, NA12878, NA11992, NA12003, NA18944, NA19205, NA10838, NA18852, NA11993, NA19160, NA12248, NA18571, NA11829, NA12236, NA19171, NA19240, NA12717, NA18853, NA19204, NA18981, NA18913, NA12760, NA19092, NA18555, NA19200, NA19202, NA18980
Known GenesANO9, AP2A2, C11orf35, CD151, CDHR5, CEND1, CHID1, DEAF1, DRD4, EFCAB4A, EPS8L2, HRAS, IRF7, LOC143666, LRRC56, MIR210, MIR210HG, MIR6744, MUC2, MUC5B, MUC6, NS3BP, PDDC1, PHRF1, PIDD, PNPLA2, POLR2L, PTDSS2, RASSF7, RNH1, RPLP2, SCT, SIGIRR, SLC25A22, SNORA52, TALDO1, TMEM80, TOLLIP, TOLLIP-AS1, TSPAN4
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)esv2759794
Frequency
Sample Size270
Observed Gain0
Observed Loss166
Observed Complex0
Frequencyn/a


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