A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759642



Internal ID9981787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132389103..132672643hg38UCSC Ensembl
Innerchr8:133401350..133684889hg19UCSC Ensembl
Innerchr8:133470532..133754071hg18UCSC Ensembl
Innerchr8:133470532..133754071hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38283541
hg19283540
hg18283540
hg17283540
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758171
SamplesNA12717, NA19222, NA11830, NA19203, NA18947, NA11995, NA19204, NA18862, NA18861, NA18508, NA12814, NA18855, NA18507, NA18603, NA19092, NA12751, NA18545, NA07029, NA12004, NA18504, NA12146, NA12865, NA10857, NA18633, NA12750, NA12155, NA18969, NA18967, NA19127, NA19192, NA19171, NA18944, NA18940, NA19201, NA10835, NA10846, NA18995, NA10854, NA12802, NA19119, NA18635, NA12891, NA18558, NA18547, NA18960, NA11992, NA18582, NA18964, NA06993, NA18949, NA18611, NA12005, NA18970, NA07019, NA19137, NA11994, NA19207, NA19172, NA18966, NA12815, NA19159, NA19209, NA18975, NA18973, NA19200, NA11993, NA18951, NA12760, NA12752, NA19120, NA19194, NA12753, NA10863, NA10831, NA12872, NA19161, NA18859, NA18515, NA19205, NA18516, NA18637, NA18579, NA18871, NA18976, NA18948, NA10838, NA12234, NA19208, NA19221, NA19202, NA18537, NA18566, NA18573, NA19142, NA10830, NA12249, NA12892, NA12239, NA18853, NA12264, NA19099, NA07345, NA06985, NA18523, NA19160, NA18570, NA18858, NA18945, NA18576, NA18608, NA18953, NA19094, NA18978, NA18914, NA18632, NA18542, NA18961, NA18952, NA12864, NA18863, NA18540, NA18564, NA19100, NA12874, NA07348, NA12763, NA18501, NA19223, NA19173, NA18987, NA19211, NA18994, NA10860, NA18521, NA18500, NA18609, NA18854, NA18972, NA18872, NA18852, NA07056, NA18505, NA19129, NA18624, NA19139, NA18623, NA12154, NA07034, NA18612, NA19153, NA18577, NA11832, NA18620, NA18997
Known GenesHPYR1, KCNQ3, LRRC6
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)esv2759642
Frequency
Sample Size270
Observed Gain3
Observed Loss151
Observed Complex0
Frequencyn/a


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