A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757920



Internal ID9633379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8520446..10272155hg38UCSC Ensembl
Innerchr4:8522173..10273779hg19UCSC Ensembl
Innerchr4:8573073..9882877hg18UCSC Ensembl
Innerchr4:8640244..9950048hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381751710
hg191751607
hg181309805
hg171309805
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759222
Supporting Variantsessv21060, essv3990, essv18719, essv13065, essv22781, essv11958, essv7554, essv393, essv23406, essv19519, essv5280, essv15541, essv8377, essv2640, essv14284, essv18735, essv13570, essv866, essv2575, essv22004, essv16788, essv1360, essv20776, essv9657, essv21781, essv20909, essv3159, essv19936, essv821, essv11834, essv22444, essv16672, essv11749, essv7751, essv10109, essv120, essv5445, essv7295, essv6186, essv17747, essv421, essv17640, essv6728, essv21202, essv17256, essv10026, essv13869, essv9126, essv14628, essv14180, essv22083, essv6692, essv5213, essv12242, essv17921, essv20197, essv13612, essv23371, essv18829, essv2230, essv23600, essv15832, essv16871, essv24787, essv3077, essv23898, essv14862, essv14505, essv19262, essv1240, essv3045, essv1882, essv22402, essv22417, essv11428, essv6362, essv2807, essv5805, essv16199, essv4178, essv7806, essv20077, essv18967, essv3775, essv24930, essv17312, essv4696, essv3460, essv24124, essv13469, essv6004, essv25010, essv3409, essv21257, essv325, essv7710, essv21677, essv3857, essv8323, essv6570, essv20270, essv23465, essv16053, essv10544, essv4120, essv4494, essv3558, essv12311, essv24868, essv15053, essv11256, essv5712, essv24433, essv10278, essv5096, essv3729, essv2839, essv19625, essv14412, essv689, essv16975, essv15734, essv14332, essv22930, essv23787, essv9934, essv23526, essv6335, essv8639, essv22484, essv461, essv17206, essv24690, essv12538, essv11839, essv1917, essv3792, essv10440, essv22172, essv5574, essv9775, essv6997, essv12495, essv3281, essv265, essv2306, essv4906, essv24597, essv18246, essv9053, essv15587, essv1752, essv17094, essv15210, essv12705, essv24237, essv18358, essv9613, essv2441, essv16162, essv9462, essv7335, essv4771, essv22348, essv15696, essv14467, essv13167, essv10680, essv22603, essv12971, essv10223, essv16403, essv21454, essv6753, essv7062, essv33, essv14100, essv14740, essv23191, essv10839, essv6894, essv1119, essv10765, essv2834, essv4270, essv23047, essv4984, essv16271, essv7147, essv5301, essv12402, essv19080, essv20652, essv16326, essv23858, essv19466, essv9371, essv11649, essv1213, essv11017, essv8771, essv4259, essv1479, essv18599, essv2242, essv11506, essv19462, essv1522, essv22924, essv22667, essv20596, essv2526, essv8841, essv527, essv19784, essv12616, essv15423, essv8483, essv10947, essv15007, essv8921, essv6945, essv11186, essv18154, essv6377, essv4563, essv14694, essv20404, essv1039, essv2071, essv13775, essv9235, essv15291
SamplesNA18998, NA18502, NA19141, NA12717, NA11830, NA19203, NA18621, NA18947, NA11995, NA11829, NA19204, NA18862, NA18861, NA18592, NA18508, NA12814, NA18524, NA18980, NA18855, NA18561, NA18507, NA19145, NA18999, NA18603, NA19092, NA12751, NA18545, NA12801, NA18504, NA12248, NA12146, NA18959, NA10857, NA19098, NA18870, NA18526, NA18633, NA12750, NA12155, NA07357, NA18969, NA12813, NA18967, NA18563, NA19127, NA19192, NA19171, NA19005, NA18944, NA18940, NA12812, NA19201, NA10835, NA10846, NA18995, NA10854, NA18860, NA18558, NA18547, NA19131, NA18960, NA11992, NA07048, NA18582, NA18571, NA19138, NA18964, NA06993, NA19130, NA18949, NA18611, NA12761, NA12005, NA18970, NA07019, NA12156, NA19137, NA19238, NA11994, NA19207, NA19172, NA19128, NA18966, NA19159, NA18990, NA10855, NA19239, NA19209, NA10839, NA18975, NA18973, NA19200, NA11993, NA19007, NA10847, NA18951, NA18605, NA12760, NA12752, NA07022, NA19194, NA12753, NA12003, NA10831, NA19152, NA19161, NA18859, NA18515, NA19205, NA18991, NA18529, NA18516, NA18637, NA18871, NA19103, NA18572, NA18976, NA18503, NA10838, NA18981, NA12234, NA19208, NA19221, NA19202, NA18537, NA18566, NA19142, NA19000, NA11840, NA10830, NA18856, NA18912, NA12892, NA19154, NA18857, NA18532, NA12239, NA18853, NA19099, NA12707, NA19101, NA18555, NA12144, NA06985, NA18523, NA19160, NA19132, NA10856, NA18570, NA18858, NA18593, NA18945, NA19012, NA18608, NA18953, NA19094, NA19003, NA18978, NA18914, NA18632, NA11882, NA18542, NA06991, NA18961, NA18952, NA12864, NA18863, NA19140, NA18913, NA19240, NA19100, NA19144, NA18992, NA10861, NA18943, NA19193, NA12874, NA07348, NA12763, NA07055, NA19143, NA18501, NA06994, NA18971, NA19223, NA19173, NA18987, NA19211, NA18994, NA19093, NA10860, NA18521, NA18500, NA18609, NA18506, NA19102, NA12875, NA18854, NA18972, NA18872, NA18552, NA18852, NA07056, NA18505, NA19129, NA18968, NA18624, NA19139, NA12006, NA07000, NA18522, NA12154, NA07034, NA18612, NA18622, NA19153, NA18562, NA18965, NA18577, NA11832, NA18620, NA18997
Known GenesCPZ, DEFB131, DRD5, GPR78, HMX1, LOC650293, MIR3138, MIR548I2, SLC2A9, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P, WDR1
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)esv2757920
Frequency
Sample Size270
Observed Gain221
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer