A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758521



Internal ID9633980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:46064276..46336238hg38UCSC Ensembl
Innerchr20:44692915..44964876hg19UCSC Ensembl
Innerchr20:44126322..44398283hg18UCSC Ensembl
Innerchr20:44126322..44398283hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38271963
hg19271962
hg18271962
hg17271962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758796
Supporting Variantsessv4986, essv15532, essv2636, essv11879, essv9444, essv4121, essv12697, essv7334, essv17611, essv20642, essv9313, essv10872, essv16156, essv9673, essv8949, essv18118, essv11694, essv21026, essv12653, essv7232, essv11224, essv13435, essv23469, essv7424, essv21234, essv7701, essv137, essv22043, essv23927, essv13015, essv10657, essv3085, essv23614, essv22999, essv14728, essv13181, essv9786, essv8803, essv23679, essv3006, essv22134, essv10380, essv14116, essv12453, essv21755, essv1832, essv15686, essv18331, essv6343, essv14556, essv11562, essv9249, essv7118, essv24154, essv7779, essv22596, essv14413, essv15288, essv24588, essv6011, essv21448, essv18288, essv10738, essv13834, essv10310, essv14352, essv8117, essv18639, essv6271, essv22671, essv4813, essv21708, essv653, essv8383, essv1252, essv6818, essv23195, essv10938, essv24471, essv20421, essv2336, essv3960, essv1150, essv7539, essv22305, essv23361, essv11775, essv4379, essv4068, essv1187, essv13535, essv19195, essv17088, essv15021, essv11033, essv20631, essv9886, essv16277, essv19778, essv22903, essv16792, essv15556, essv5368, essv13072, essv7820, essv22766, essv20208, essv14188, essv16634, essv16845, essv24518, essv3776, essv2016, essv11110, essv17185, essv2262, essv9972, essv16009
SamplesNA12717, NA19222, NA11830, NA19204, NA18861, NA18508, NA12814, NA18855, NA19145, NA18545, NA18504, NA12248, NA12865, NA10857, NA18870, NA18633, NA12750, NA07357, NA18969, NA18967, NA18563, NA19192, NA19171, NA18940, NA19201, NA10835, NA10846, NA18995, NA12802, NA18635, NA18558, NA18547, NA11992, NA18571, NA18964, NA18949, NA18970, NA07019, NA12156, NA19137, NA11994, NA19207, NA19172, NA19128, NA18966, NA19159, NA19209, NA18975, NA19200, NA11993, NA10847, NA18951, NA12760, NA12752, NA19194, NA12753, NA10863, NA19161, NA18859, NA19205, NA18637, NA18579, NA18871, NA18976, NA18981, NA12234, NA19208, NA19221, NA19202, NA18537, NA18573, NA19142, NA10830, NA12056, NA18912, NA12892, NA19154, NA12239, NA18853, NA19099, NA18555, NA06985, NA18523, NA19160, NA18570, NA18858, NA19094, NA18914, NA19206, NA18542, NA06991, NA18961, NA18863, NA19140, NA18913, NA19100, NA07348, NA19143, NA18501, NA19173, NA19211, NA18636, NA18500, NA18609, NA18506, NA19102, NA18854, NA18872, NA18852, NA07056, NA18505, NA18968, NA12006, NA18623, NA12154, NA07034, NA11832, NA18620
Known GenesCD40, CDH22, NCOA5
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)esv2758521
Frequency
Sample Size270
Observed Gain0
Observed Loss118
Observed Complex0
Frequencyn/a


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