A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421406



Internal ID7905168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59578250..59592607hg38UCSC Ensembl
Innerchr1:60043922..60058279hg19UCSC Ensembl
Innerchr1:59816510..59830867hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3814358
hg1914358
hg1814358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5031374, essv5154431, essv5065775, essv5118877, essv5071340, essv5078871, essv5158322, essv5063136, essv5054047, essv5017433, essv5109585, essv5135853, essv5099289, essv5020151, essv5099583, essv5115475, essv5054474, essv5113121, essv5021553, essv5109864, essv5015016, essv5032236, essv5126515, essv5134301, essv5020452, essv5039137, essv5036591, essv5067428, essv5132707, essv5031687, essv5022439, essv5078694, essv5091329, essv5028202, essv5009372, essv5027230, essv5047791, essv5119898, essv5005275, essv5017970, essv5105946, essv5122235, essv5112933, essv5044255, essv5084190, essv5087946, essv5079202, essv5009759, essv5066027, essv5086182, essv5129886, essv5124457, essv5065636, essv5157461, essv5096990, essv5108757, essv5060096, essv5048759, essv5103155, essv5130525, essv5045547, essv5011633, essv5028615, essv5019130, essv5021978, essv5117768, essv5137789, essv5068132, essv5088344, essv5150614, essv5060169, essv5002820, essv5056501, essv5038259, essv5092760, essv5063892, essv5043644, essv5060569, essv5034332, essv5028079, essv5129341, essv5053666, essv5103864, essv5056547, essv5149511, essv5040584, essv5054403, essv5094505, essv5085406, essv5120070, essv5041049, essv5040550, essv5066842, essv5103220, essv5139519, essv5049821, essv5114575, essv5055954, essv5057642, essv5033434, essv5096985, essv5103948, essv5024755, essv5044839, essv5074004, essv5041519, essv5144502, essv5060972, essv5159584, essv5027088, essv5051229, essv5072761, essv5136841, essv5103035, essv5041917, essv5039434, essv5053200, essv5090086, essv5087514, essv5023539, essv5155732, essv5121507, essv5065377, essv5103560, essv5049830, essv5036975, essv5035130, essv5045441, essv5130173, essv5080174, essv5058318, essv5098890, essv5045282, essv5099242, essv5134318, essv5113893, essv5158907, essv5070187, essv5097353, essv5082473, essv5087237, essv5055366, essv5132781, essv5147049, essv5048253, essv5061577, essv5038835, essv5115967, essv5120685, essv5119858, essv5155309, essv5036213, essv5004870, essv5153361, essv5100443, essv5049082, essv5003480, essv5059035, essv5088404, essv5091848, essv5118931
SamplesNA19714, NA19248, NA21520, NA19127, NA20787, NA21441, NA18520, NA20527, NA18914, NA20349, NA19222, NA21317, NA18933, NA21580, NA21517, NA21613, NA21599, NA18500, NA21575, NA18859, NA19455, NA20294, NA20775, NA19430, NA19788, NA20902, NA21300, NA18969, NA12828, NA21825, NA20786, NA19184, NA19782, NA20292, NA21371, NA18855, NA19210, NA19379, NA20319, NA21425, NA11893, NA18965, NA21611, NA18505, NA19472, NA20877, NA18873, NA18626, NA20295, NA19226, NA21400, NA19117, NA19762, NA19062, NA19428, NA12763, NA18912, NA19650, NA20875, NA20849, NA21686, NA21493, NA11994, NA19828, NA21421, NA18930, NA21596, NA19096, NA20127, NA18956, NA21513, NA21683, NA21352, NA21522, NA21451, NA19919, NA21115, NA21491, NA20769, NA21442, NA19377, NA20128, NA19172, NA21333, NA20291, NA21311, NA20126, NA19784, NA20345, NA21339, NA19102, NA19238, NA21107, NA21514, NA20344, NA21379, NA19119, NA19098, NA19708, NA21574, NA21382, NA21648, NA19139, NA20350, NA21303, NA21485, NA18978, NA19763, NA20347, NA19347, NA19909, NA21784, NA21418, NA19221, NA19382, NA19318, NA19711, NA20891, NA20360, NA21313, NA21378, NA19038, NA19138, NA18909, NA18955, NA20357, NA20911, NA19201, NA19193, NA19394, NA19403, NA19009, NA12156, NA19431, NA19123, NA20287, NA19132, NA19818, NA19649, NA21362, NA18946, NA21424, NA19063, NA19327, NA21436, NA20869, NA19371, NA20359, NA20543, NA19470, NA20872, NA19130, NA18853, NA19350, NA19381, NA19087, NA21091, NA19456, NA19121, NA19746, NA21494
Known GenesFGGY
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)esv2421406
Frequency
Sample Size1184
Observed Gain0
Observed Loss161
Observed Complex0
Frequencyn/a


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