A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757978



Internal ID9633437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:620048..1161361hg38UCSC Ensembl
Innerchr5:620163..1161476hg19UCSC Ensembl
Innerchr5:673163..1214476hg18UCSC Ensembl
Innerchr5:673163..1214476hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38541314
hg19541314
hg18541314
hg17541314
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759316
Supporting Variantsessv7189, essv16707, essv4762, essv1029, essv22987, essv15278, essv17759, essv9323, essv8287, essv3889, essv23928, essv9428, essv21438, essv1429, essv11744, essv8937, essv24530, essv15311, essv11440, essv1100, essv20651, essv150, essv21123, essv16977, essv336, essv8447, essv24376, essv8110, essv1200, essv19016, essv10641, essv13720, essv24887, essv18438, essv1880, essv678, essv18703, essv14501, essv14091, essv5736, essv2648, essv11164, essv6179, essv2860, essv12457, essv10554, essv18835, essv18391, essv455, essv9127, essv14992, essv3054, essv12325, essv6812, essv14153, essv19613, essv21868, essv20559, essv13058, essv12571, essv4634, essv14633, essv7382, essv9756, essv7778, essv17509, essv25016, essv13026, essv11670, essv11281, essv1286, essv14406, essv848, essv16111, essv17450, essv7809, essv3286, essv20090, essv22546, essv1402, essv3152, essv14852, essv6028, essv16463, essv23657, essv1735, essv15851, essv8757, essv7612, essv15582, essv2774, essv14355, essv13192, essv271, essv23519, essv13935, essv10035, essv4472, essv16287, essv11542, essv9203, essv6700, essv22123, essv11801, essv17066, essv9041, essv18249, essv5153, essv22474, essv6586, essv4565, essv15638, essv11921, essv16012, essv4283, essv15031, essv2514, essv10286, essv4386, essv9916, essv8597, essv20245, essv8874, essv20966, essv17162, essv14712, essv14459, essv17344, essv12181, essv5577, essv24079, essv10102
SamplesNA18502, NA12717, NA18621, NA19204, NA18862, NA18861, NA18508, NA12814, NA18524, NA18855, NA18507, NA19145, NA18603, NA19092, NA12751, NA18545, NA12801, NA18504, NA10857, NA19098, NA18870, NA12155, NA07357, NA18967, NA19171, NA19005, NA18944, NA19201, NA10846, NA18995, NA12802, NA19119, NA18860, NA18558, NA18547, NA07048, NA18571, NA12762, NA19138, NA18964, NA06993, NA19130, NA12761, NA12005, NA19137, NA19207, NA19172, NA19128, NA12815, NA19159, NA19239, NA10839, NA18975, NA18973, NA19200, NA19007, NA11831, NA18951, NA19194, NA10863, NA10831, NA19161, NA18859, NA18529, NA18516, NA18579, NA19103, NA18976, NA11839, NA18981, NA19208, NA19202, NA18573, NA19142, NA18856, NA12249, NA18912, NA12892, NA19154, NA18857, NA18532, NA18853, NA19099, NA12707, NA19101, NA12144, NA19132, NA18593, NA19012, NA12043, NA18608, NA18953, NA19094, NA19003, NA18978, NA19206, NA18542, NA18952, NA18863, NA18564, NA10859, NA19140, NA19240, NA19100, NA19144, NA12874, NA07348, NA18594, NA18501, NA18971, NA19223, NA19173, NA18987, NA19211, NA18994, NA19093, NA18521, NA18506, NA19102, NA18854, NA18972, NA18552, NA18852, NA07056, NA19129, NA18968, NA19139, NA18623, NA07000, NA18522, NA18620, NA18997
Known GenesBRD9, CEP72, LOC100506688, MIR4635, NKD2, SLC12A7, TPPP, TRIP13, ZDHHC11
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)esv2757978
Frequency
Sample Size270
Observed Gain121
Observed Loss11
Observed Complex0
Frequencyn/a


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