A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422173



Internal ID7905935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:147015583..147017695hg38UCSC Ensembl
Innerchr5:146395146..146397258hg19UCSC Ensembl
Innerchr5:146375339..146377451hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382113
hg192113
hg182113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5135672, essv5011780, essv5149219, essv5149793, essv5150468, essv5152394, essv5006048, essv5119682, essv5086595, essv5118166, essv5129188, essv5032090, essv5142152, essv5091060, essv5078054, essv5065412, essv5073430, essv5088711, essv5073810, essv5015035, essv5116175, essv5074812, essv5004560, essv5005033, essv5076092, essv5154105, essv5027171, essv5088749, essv5121729, essv5032165, essv5104554, essv5089015, essv5053994, essv5126986, essv5044660, essv5010524, essv5147666, essv5005345, essv5123549, essv5148193, essv5022498, essv5143385, essv5061634, essv5102685, essv5051199, essv5013852, essv5002843, essv5100487, essv5108677, essv5122033, essv5099180, essv5045839, essv5102594, essv5071300, essv5126055, essv5128590, essv5059369, essv5139153, essv5142220, essv5034257, essv5010026, essv5131642, essv5089293, essv5025486, essv5051863, essv5130505, essv5050352, essv5079320, essv5132711, essv5101052, essv5038283, essv5149714, essv5086907, essv5020498, essv5141292, essv5055445, essv5149533, essv5044707, essv5100227, essv5018253, essv5066160, essv5021285, essv5136128, essv5141175, essv5024847, essv5009403, essv5055024, essv5124970, essv5019364, essv5026535, essv5130146, essv5079665, essv5025522, essv5141927, essv5124364, essv5122783, essv5158244, essv5062154, essv5130326, essv5031430, essv5058672, essv5105001, essv5074066, essv5013804, essv5031603, essv5093109, essv5017549, essv5072656, essv5106470
SamplesNA18642, NA18647, NA18605, NA18595, NA18158, NA17983, NA18594, NA19081, NA18117, NA18148, NA18612, NA18757, NA19072, NA18639, NA18603, NA18993, NA18529, NA18953, NA18947, NA19010, NA18134, NA18573, NA18608, NA18546, NA19760, NA18127, NA18109, NA18524, NA18156, NA18965, NA17979, NA21611, NA18596, NA18632, NA18559, NA17997, NA18998, NA18967, NA18627, NA18114, NA18154, NA19068, NA18576, NA18622, NA18960, NA18618, NA18162, NA18617, NA18641, NA18991, NA18592, NA19083, NA19066, NA18959, NA17977, NA18593, NA19056, NA19086, NA18970, NA19000, NA18144, NA19080, NA18640, NA18633, NA18572, NA18954, NA18685, NA19005, NA18674, NA18151, NA17967, NA18748, NA18942, NA18613, NA17970, NA18694, NA18125, NA18136, NA17987, NA18974, NA18945, NA18552, NA18599, NA18955, NA19723, NA19078, NA18740, NA19009, NA17975, NA18971, NA18146, NA20300, NA18946, NA19064, NA17976, NA18944, NA19063, NA18571, NA18108, NA18532, NA18112, NA19079, NA17965, NA19087, NA18555, NA19065, NA19724, NA18980, NA18962
Known GenesPPP2R2B
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)esv2422173
Frequency
Sample Size1184
Observed Gain0
Observed Loss109
Observed Complex0
Frequencyn/a


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