A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759348



Internal ID9634807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69778293..71500057hg38UCSC Ensembl
Innerchr5:69074120..70795884hg19UCSC Ensembl
Innerchr5:69109876..70831640hg18UCSC Ensembl
Innerchr5:69109876..70831640hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381721765
hg191721765
hg181721765
hg171721765
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757998
SamplesNA10859, NA18503, NA19142, NA19137, NA11881, NA18870, NA12154, NA18863, NA19127, NA12043, NA19152, NA12249, NA18605, NA12750, NA18594, NA18914, NA18871, NA12802, NA19222, NA12801, NA18523, NA18975, NA07056, NA18966, NA18612, NA18501, NA19093, NA19120, NA18500, NA10839, NA18550, NA12264, NA18859, NA10847, NA18603, NA18948, NA18516, NA12707, NA12813, NA18529, NA18953, NA18969, NA18517, NA18573, NA18608, NA18542, NA12005, NA18855, NA19144, NA19210, NA07348, NA10855, NA18860, NA07029, NA18524, NA18965, NA18505, NA12044, NA19208, NA18862, NA18949, NA19143, NA10863, NA12865, NA11882, NA12763, NA18998, NA19239, NA12056, NA11839, NA11840, NA12753, NA07034, NA12004, NA18854, NA18566, NA11994, NA18635, NA12155, NA18622, NA18960, NA12864, NA18563, NA07357, NA18623, NA12762, NA12873, NA18990, NA18991, NA12814, NA18636, NA12740, NA07048, NA12761, NA18956, NA18959, NA18609, NA18547, NA11831, NA18637, NA11995, NA12234, NA12144, NA18970, NA12751, NA12006, NA12239, NA19153, NA12716, NA18537, NA18620, NA18515, NA19129, NA19172, NA12892, NA19094, NA06985, NA19206, NA18968, NA18522, NA18502, NA19119, NA18558, NA19098, NA19154, NA12057, NA10856, NA12872, NA18504, NA18978, NA18942, NA18540, NA18997, NA18562, NA19131, NA19159, NA18974, NA18945, NA18940, NA11832, NA18987, NA10857, NA12146, NA07055, NA18552, NA10860, NA19101, NA19201, NA18995, NA06991, NA19193, NA18872, NA19128, NA12812, NA12156, NA10835, NA18971, NA19132, NA12878, NA11830, NA18944, NA18852, NA11993, NA19160, NA12248, NA18571, NA18611, NA11829, NA12236, NA19130, NA19171, NA19240, NA12717, NA12874, NA18853, NA19204, NA18913, NA19007, NA19202, NA07000, NA18980, NA10854, NA10861
Known GenesBDP1, GTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, LOC647859, NAIP, PMCHL2, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
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)esv2759348
Frequency
Sample Size270
Observed Gain161
Observed Loss23
Observed Complex0
Frequencyn/a


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