A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757743



Internal ID9633202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103447737..103909380hg38UCSC Ensembl
Innerchr1:103990359..104452002hg19UCSC Ensembl
Innerchr1:103762947..104253525hg18UCSC Ensembl
Innerchr1:103702380..104164023hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38461644
hg19461644
hg18490579
hg17461644
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758954
Supporting Variantsessv5129, essv6741, essv5801, essv9780, essv7016, essv15744, essv24926, essv13769, essv13634, essv4643, essv695, essv4817, essv19559, essv110, essv6165, essv21698, essv21049, essv14565, essv23612, essv5936, essv10016, essv11905, essv24080, essv14791, essv13045, essv4255, essv5751, essv2578, essv6831, essv855, essv22292, essv301, essv18342, essv7780, essv20146, essv3268, essv17463, essv16969, essv9614, essv3520, essv17620, essv3101, essv1597, essv15340, essv15586, essv20320, essv2320, essv14859, essv1912, essv1128, essv2167, essv20771, essv21280, essv13729, essv11429, essv10791, essv12557, essv12283, essv3869, essv18647, essv25015, essv24007, essv8324, essv8875, essv22875, essv23245, essv11653, essv4922, essv19904, essv12796, essv15231, essv3454, essv21520, essv8923, essv23775, essv13166, essv4378, essv21181, essv5204, essv6656, essv15808, essv17658, essv1423, essv22480, essv18985, essv246, essv9405, essv4721, essv5516, essv26, essv1531, essv9196, essv19232, essv1723, essv12980, essv19679, essv21415, essv18437, essv24794, essv3148, essv19103, essv18211, essv11098, essv9135, essv24377, essv17764, essv6966, essv6339, essv18138, essv15130, essv4083, essv16052, essv5262, essv20039, essv8176, essv13840, essv14641, essv22759, essv20420, essv18075, essv8624, essv20942, essv22953, essv1385, essv427, essv20673, essv7331, essv16644, essv14390, essv6012, essv331, essv24286, essv18411, essv7570, essv5332, essv18272, essv22630, essv24149, essv22122, essv2856, essv583, essv10314, essv24713, essv2814, essv4486, essv22447, essv12345, essv3712, essv5028, essv17347, essv3353, essv2049, essv10255, essv7288, essv2512, essv1268, essv3809, essv8378, essv8188, essv6233, essv17729, essv11864, essv8451, essv19597, essv6875, essv3235, essv14171, essv15407, essv14370, essv4962, essv11566, essv18774, essv19762, essv1009, essv11220
SamplesNA18998, NA18502, NA19141, NA12717, NA11830, NA19203, NA18947, NA11829, NA19204, NA18862, NA18592, NA18508, NA18980, NA12236, NA18561, NA18507, NA18603, NA18545, NA07029, NA12801, NA12248, NA12146, NA10857, NA19098, NA12155, NA07357, NA18969, NA12813, NA18563, NA19127, NA19005, NA18944, NA18940, NA18550, NA10835, NA10846, NA18995, NA19119, NA18635, NA18860, NA19131, NA18960, NA18942, NA07048, NA18582, NA18571, NA19138, NA18964, NA18949, NA18611, NA12761, NA12005, NA07019, NA19137, NA11994, NA19128, NA19159, NA18990, NA10855, NA19239, NA10839, NA18975, NA19200, NA11993, NA19007, NA11831, NA10847, NA18605, NA12760, NA12752, NA19120, NA19194, NA12753, NA10831, NA19152, NA12872, NA18859, NA18991, NA18529, NA18516, NA18637, NA18579, NA19103, NA18976, NA18948, NA10838, NA12234, NA19208, NA19221, NA19202, NA18566, NA18573, NA19142, NA19000, NA10830, NA18856, NA12249, NA12892, NA19154, NA18857, NA18532, NA12264, NA12145, NA19099, NA12707, NA19101, NA07345, NA06985, NA18523, NA10856, NA18570, NA18858, NA18593, NA18945, NA19012, NA18974, NA18576, NA12043, NA18608, NA18953, NA19094, NA19003, NA18978, NA11882, NA19206, NA18542, NA06991, NA12716, NA11881, NA18952, NA12864, NA18863, NA12057, NA10859, NA19140, NA12873, NA19144, NA18992, NA18943, NA12874, NA12763, NA07055, NA18594, NA18501, NA06994, NA18971, NA19223, NA19173, NA18987, NA19211, NA18994, NA19093, NA10860, NA18636, NA18609, NA18506, NA19102, NA18854, NA19116, NA18972, NA18552, NA18852, NA19129, NA18968, NA18624, NA12006, NA18522, NA18612, NA18622, NA19153, NA18562, NA18965, NA18577, NA18620, NA18997
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, LOC101928436, RNPC3
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)esv2757743
Frequency
Sample Size270
Observed Gain143
Observed Loss32
Observed Complex0
Frequencyn/a


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