A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2421406

Internal ID7905168
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59578250..59592607hg38UCSC Ensembl
Innerchr1:60043922..60058279hg19UCSC Ensembl
Innerchr1:59816510..59830867hg18UCSC Ensembl
Allele length
AssemblyAllele length
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
Pubmed ID20811451
Accession Number(s)esv2421406
Sample Size1184
Observed Gain0
Observed Loss161
Observed Complex0

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