A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422138



Internal ID8252586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:28047590..28050779hg38UCSC Ensembl
Innerchr9:28047588..28050777hg19UCSC Ensembl
Innerchr9:28037588..28040777hg18UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg383190
hg193190
hg183190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5067909, essv5136658, essv5015872, essv5095372, essv5136720, essv5011028, essv5143961, essv5124810, essv5114457, essv5083674, essv5120484, essv5106285, essv5083686, essv5141951, essv5023273, essv5026100, essv5074600, essv5049010, essv5026310, essv5107100, essv5152746, essv5080946, essv5046123, essv5111995, essv5032596, essv5158340, essv5108422, essv5020979, essv5126580, essv5122716, essv5127901, essv5029457, essv5062262, essv5154645, essv5095905, essv5093218, essv5028546, essv5046451, essv5094002, essv5101877, essv5047921, essv5024716, essv5156963, essv5078346, essv5003697, essv5140617, essv5028604, essv5008251, essv5090199, essv5013471, essv5053992, essv5022322, essv5102024, essv5022206, essv5024603, essv5078512, essv5154590, essv5127262, essv5005851, essv5112390, essv5012834, essv5003400, essv5061054, essv5023288, essv5101120, essv5050609, essv5047350, essv5124971, essv5050831, essv5082174, essv5015538, essv5089217, essv5003024, essv5050563, essv5020988, essv5155078, essv5138262, essv5016924, essv5123346, essv5073053, essv5142664, essv5017030, essv5094444, essv5005697, essv5004392, essv5105232, essv5096364, essv5142610, essv5057020, essv5043356, essv5059212, essv5077834, essv5032203, essv5151108, essv5090554, essv5015202, essv5054275, essv5066124, essv5070330, essv5047533, essv5092549, essv5084098, essv5016805, essv5051813, essv5128853, essv5115884, essv5075003, essv5006518, essv5014333, essv5060913, essv5002435, essv5069825, essv5160781
SamplesNA20874, NA12842, NA20891, NA21089, NA20766, NA19249, NA19332, NA21436, NA18561, NA19704, NA18641, NA18603, NA19795, NA20294, NA19819, NA21648, NA21115, NA20332, NA21693, NA19098, NA20771, NA20894, NA18969, NA19107, NA19746, NA19381, NA19005, NA10846, NA20756, NA19138, NA20287, NA21391, NA21370, NA19383, NA18977, NA19372, NA19317, NA21107, NA17993, NA12889, NA19159, NA19036, NA19002, NA18520, NA19796, NA12828, NA19445, NA18640, NA18954, NA19921, NA19451, NA18638, NA20129, NA21307, NA20892, NA21313, NA19247, NA19657, NA19070, NA19670, NA19175, NA18109, NA19748, NA18685, NA21617, NA20344, NA19776, NA20903, NA19671, NA19084, NA20881, NA19781, NA19113, NA12817, NA19257, NA12144, NA19095, NA19625, NA18858, NA18945, NA18974, NA20872, NA18632, NA18909, NA18952, NA18559, NA19473, NA19174, NA20520, NA19144, NA18128, NA21123, NA21647, NA20516, NA19193, NA12874, NA18911, NA20357, NA19117, NA19705, NA19060, NA19828, NA17987, NA20786, NA21312, NA19780, NA19711, NA19757, NA19755, NA19139, NA20907, NA21491, NA19074
Known GenesLINGO2
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2422138
Frequency
Sample Size1184
Observed Gain0
Observed Loss113
Observed Complex0
Frequencyn/a


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