A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759416



Internal ID9634875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32403976..32737657hg38UCSC Ensembl
Innerchr6:32371753..32705434hg19UCSC Ensembl
Innerchr6:32479731..32813412hg18UCSC Ensembl
Innerchr6:32479731..32813412hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38333682
hg19333682
hg18333682
hg17333682
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758044
SamplesNA10859, NA18503, NA19142, NA19137, NA10831, NA11881, NA18621, NA19207, NA18870, NA18964, NA12154, NA18863, NA19127, NA12043, NA19152, NA19194, NA12249, NA18861, NA18605, NA12750, NA18594, NA18951, NA19192, NA18914, NA18871, NA12802, NA19222, NA18561, NA12801, NA18523, NA18952, NA18975, NA07056, NA18966, NA19173, NA12752, NA12875, NA18612, NA19209, NA18501, NA19093, NA19120, NA18526, NA10839, NA18550, NA18570, NA19003, NA18859, NA19223, NA12815, NA10847, NA18516, NA12707, NA19203, NA18521, NA18529, NA18953, NA18969, NA18972, NA18517, NA18947, NA18608, NA18542, NA07019, NA12005, NA18855, NA19144, NA19210, NA07348, NA18507, NA10855, NA18860, NA18994, NA07029, NA18524, NA18505, NA12044, NA19208, NA18506, NA18943, NA18949, NA19143, NA10863, NA18632, NA12865, NA19140, NA11882, NA19161, NA12763, NA18912, NA19211, NA18998, NA18624, NA18508, NA18967, NA19239, NA12056, NA18992, NA11839, NA12753, NA12004, NA18566, NA12155, NA18576, NA10846, NA12864, NA18563, NA07345, NA07357, NA12762, NA12873, NA18991, NA12814, NA18636, NA12740, NA18592, NA18856, NA07048, NA18959, NA18609, NA18547, NA11831, NA18976, NA18637, NA18973, NA11995, NA19100, NA12234, NA12144, NA18970, NA12751, NA12006, NA19000, NA12239, NA12145, NA19153, NA12716, NA18537, NA18620, NA18515, NA19129, NA19172, NA12892, NA18572, NA19094, NA19103, NA06985, NA19206, NA18968, NA19102, NA18522, NA19238, NA19005, NA18502, NA19119, NA18558, NA19098, NA19154, NA12057, NA10856, NA19139, NA12872, NA18504, NA18978, NA18858, NA18942, NA18540, NA19221, NA18562, NA19131, NA19159, NA18579, NA18974, NA18945, NA19141, NA18940, NA19145, NA11832, NA12891, NA18987, NA18582, NA10857, NA12146, NA07055, NA18552, NA19138, NA10860, NA19101, NA19201, NA18995, NA06991, NA19193, NA18872, NA19128, NA12812, NA18857, NA19116, NA18971, NA19132, NA10830, NA18577, NA19099, NA12878, NA11830, NA11992, NA12003, NA18944, NA19205, NA10838, NA11993, NA19160, NA12248, NA18571, NA18611, NA12236, NA19130, NA19171, NA19240, NA12717, NA12874, NA18853, NA18981, NA06994, NA18913, NA19092, NA18555, NA19200, NA19007, NA19202, NA07000, NA18980
Known GenesBTNL2, HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6
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)esv2759416
Frequency
Sample Size270
Observed Gain165
Observed Loss205
Observed Complex0
Frequencyn/a


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