A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421495



Internal ID7905257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62624950..62626520hg38UCSC Ensembl
Innerchr3:62610625..62612195hg19UCSC Ensembl
Innerchr3:62585665..62587235hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg381571
hg191571
hg181571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5031951, essv5116922, essv5058905, essv5002506, essv5028925, essv5106133, essv5076105, essv5122024, essv5079029, essv5018482, essv5049538, essv5015867, essv5089212, essv5083179, essv5041961, essv5091348, essv5067302, essv5093108, essv5096880, essv5123206, essv5026423, essv5088593, essv5105507, essv5052864, essv5068640, essv5109009, essv5077711, essv5084197, essv5064172, essv5155740, essv5132662, essv5004196, essv5017181, essv5129398, essv5061732, essv5092713, essv5107120, essv5097658, essv5089305, essv5112381, essv5143997, essv5003547, essv5083257, essv5109087, essv5099366, essv5093332, essv5032428, essv5133769, essv5103144, essv5056698, essv5088034, essv5112781, essv5131508, essv5161178, essv5016094, essv5086488, essv5024094, essv5058565, essv5004124, essv5063543, essv5097750, essv5158909, essv5007659, essv5104094, essv5116087, essv5102699, essv5112943, essv5158160, essv5123617, essv5096608, essv5123908, essv5086308, essv5119943, essv5130270, essv5081254, essv5109836, essv5052342, essv5038367, essv5057520, essv5074852, essv5021995, essv5159017, essv5091073, essv5119369, essv5031534, essv5140440
SamplesNA20281, NA19248, NA21741, NA19214, NA18509, NA19352, NA21353, NA20349, NA21678, NA21578, NA19437, NA21776, NA21529, NA19178, NA21575, NA20294, NA21487, NA21718, NA19109, NA19150, NA18484, NA18507, NA21425, NA19915, NA18488, NA18506, NA19147, NA19143, NA19914, NA19161, NA19383, NA18508, NA19148, NA19239, NA19107, NA18497, NA18485, NA19181, NA21408, NA19457, NA19918, NA20341, NA21491, NA19213, NA21311, NA21717, NA19215, NA21739, NA19708, NA21574, NA20350, NA21381, NA21619, NA18487, NA18925, NA21418, NA19159, NA21440, NA21486, NA20333, NA21378, NA19376, NA21635, NA18909, NA18911, NA21510, NA20332, NA21519, NA21424, NA19041, NA19225, NA19224, NA19399, NA21436, NA18499, NA18924, NA19916, NA19470, NA19171, NA19204, NA19473, NA19185, NA19200, NA19202, NA21636, NA19439
Known GenesCADPS
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)esv2421495
Frequency
Sample Size1184
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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