A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758006



Internal ID9633465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99871970..100510551hg38UCSC Ensembl
Innerchr5:99207674..99846255hg19UCSC Ensembl
Innerchr5:99235573..99874154hg18UCSC Ensembl
Innerchr5:99235573..99874154hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38638582
hg19638582
hg18638582
hg17638582
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759359
Supporting Variantsessv6631, essv36, essv159, essv16756, essv7693, essv8819, essv18295, essv2292, essv21205, essv14295, essv15133, essv18611, essv4375, essv21035, essv9925, essv20669, essv23035, essv21961, essv1442, essv5442, essv15394, essv12493, essv2346, essv1266, essv5406, essv18089, essv10246, essv9419, essv15641, essv23918, essv22321, essv6023, essv19652, essv18987, essv6194, essv18238, essv11826, essv10276, essv2204, essv17933, essv10864, essv3779, essv2862, essv16319, essv16106, essv4303, essv5034, essv23666, essv13892, essv22117, essv11020, essv11155, essv22405, essv11432, essv10920, essv19960, essv22864, essv13542, essv17767, essv15233, essv230, essv7007, essv5175, essv13011, essv20271, essv5241, essv4461, essv14058, essv10740, essv6242, essv20069, essv13450, essv17261, essv9075, essv24487, essv12713, essv23542, essv18360, essv4863, essv4741, essv6678, essv22952, essv14181, essv1722, essv10049, essv483, essv22184, essv12295, essv24152, essv14534, essv350, essv1947, essv16438, essv11248, essv14773, essv5575, essv21151, essv24882, essv19392, essv7824, essv23571, essv15483, essv20620, essv7432, essv10096, essv14386, essv23362, essv20405, essv23816, essv13090, essv809, essv15817, essv8365, essv16208, essv20892, essv16831, essv11860, essv16965, essv24752, essv2658, essv20156, essv19283, essv12614, essv9398, essv12782, essv10649, essv3073, essv21764, essv9435, essv12554, essv7615, essv7333, essv9826, essv19929, essv19760, essv15507, essv16508, essv686, essv16708, essv9165, essv7120, essv18369, essv4143, essv3957, essv12272, essv2466, essv8460, essv3545, essv11593, essv15055, essv17106, essv1847, essv8214, essv17593, essv10423, essv4988, essv19591, essv6829, essv15563, essv18143, essv15015, essv3140, essv4086, essv14593
SamplesNA19222, NA11830, NA19203, NA18621, NA11995, NA19204, NA18861, NA18508, NA12814, NA18855, NA18507, NA19145, NA18999, NA18603, NA18545, NA12801, NA18959, NA10857, NA19098, NA18870, NA18633, NA12750, NA07357, NA18969, NA12813, NA18967, NA18563, NA19192, NA19171, NA18944, NA18940, NA12812, NA10835, NA10846, NA18995, NA12802, NA18635, NA18558, NA18960, NA07048, NA18571, NA12762, NA19138, NA06993, NA19130, NA18611, NA12005, NA18970, NA19137, NA12044, NA11994, NA19207, NA19128, NA18966, NA12815, NA19159, NA19209, NA18975, NA18973, NA11993, NA10847, NA19210, NA12760, NA19120, NA19194, NA12003, NA10863, NA10831, NA19152, NA19161, NA18859, NA19205, NA18991, NA18529, NA18516, NA18637, NA18579, NA18871, NA18976, NA18948, NA18503, NA10838, NA18981, NA12234, NA19208, NA19221, NA19202, NA18537, NA18573, NA19142, NA11840, NA10830, NA12249, NA18912, NA12892, NA18857, NA18532, NA12239, NA18853, NA12264, NA12145, NA19099, NA19101, NA18555, NA12144, NA06985, NA18523, NA19160, NA19132, NA18570, NA18858, NA18576, NA18608, NA18953, NA19094, NA18914, NA18632, NA06991, NA18961, NA18952, NA12864, NA18863, NA18540, NA12057, NA19140, NA19100, NA19144, NA10861, NA19193, NA12763, NA19143, NA18971, NA19223, NA19173, NA19211, NA19093, NA10860, NA18636, NA18521, NA18500, NA18506, NA18854, NA19116, NA18872, NA18552, NA18852, NA07056, NA18505, NA19129, NA18968, NA18624, NA19139, NA12006, NA18623, NA07000, NA18612, NA18965, NA11832, NA18620, NA18997
Known GenesLOC100133050
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)esv2758006
Frequency
Sample Size270
Observed Gain10
Observed Loss154
Observed Complex0
Frequencyn/a


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