A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669580



Internal ID9588999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124311270..124311390hg38UCSC Ensembl
chr12:124795816..124795936hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5936528, essv5639020, essv5600452, essv5457845, essv5402901, essv5678041, essv5670106, essv5770078, essv6455656, essv5703220, essv6282767, essv5866746, essv5569879, essv6374255, essv6134865, essv5406654, essv6219465, essv5820184, essv5759808, essv5567096, essv6437033, essv6249360, essv5971998, essv6003863, essv5747569, essv6489076, essv6327145, essv6199854, essv6213975, essv6569872, essv6250260, essv5904197, essv5422126, essv5402557, essv5859018, essv5575496, essv6531608, essv6581602, essv5592564, essv6408381, essv6004389, essv5498544, essv6084279, essv5828612, essv6084859, essv5898492, essv6488722, essv5937196, essv6520271, essv5508289, essv5634565, essv5981250, essv6506206, essv6213034, essv6352999, essv5402684, essv6007311, essv6242907, essv5811214, essv6221086, essv5858699, essv5875774, essv5678663, essv6513252, essv5956815, essv6213876, essv5925741, essv6040076, essv5774833, essv6211578, essv5845197, essv5410454, essv5528392, essv6078125, essv6252199, essv6165724, essv5960531, essv6287093, essv5746357, essv6309028, essv6127635, essv6226948, essv5674609, essv6270038, essv5500834, essv6086129, essv5946275, essv6593336, essv6092196, essv6152320, essv5625491, essv6343258, essv5780050, essv5629879, essv6151784, essv5621954, essv6494803, essv5923970, essv5538110, essv5742736, essv6208727, essv5487765, essv5958150, essv5714287, essv6004253, essv5833502, essv6175260, essv5520545, essv6203117, essv6244343, essv6453852, essv5773037, essv5603981, essv6149389, essv5629416, essv5523998, essv5759798, essv6322213, essv6480199, essv5435240, essv5630507, essv6281863, essv6398183, essv6476597, essv5753926, essv5438449, essv6303944, essv5405388, essv5650523, essv6053731, essv6130118, essv5820571
SamplesNA19012, NA19137, NA19248, HG00157, NA19445, HG00734, HG00318, NA07347, NA18595, NA18951, HG01353, NA18561, NA20506, HG00328, NA19114, HG00145, NA20516, NA20510, NA12347, NA20535, NA11918, HG00310, HG00707, NA10847, NA20759, NA19359, HG00117, NA19331, NA20816, NA18517, HG00475, NA19010, NA19449, NA18608, HG01350, NA19834, NA20588, HG00280, HG00335, HG00319, NA18505, NA19472, NA12044, NA18873, NA20340, HG00256, HG00339, NA19463, NA20505, HG00242, NA18508, NA19054, NA19239, HG00583, NA12004, HG00140, NA18960, NA07357, NA18623, NA19900, NA19107, HG00692, NA20807, NA19397, NA19908, NA19066, HG00419, NA19256, NA18637, NA11995, NA19773, NA12777, HG00237, NA12751, NA19000, NA19213, NA20769, NA19247, NA19313, NA20291, HG00653, HG01066, NA18923, NA06986, NA19238, NA20344, HG01073, HG00282, HG00232, HG01356, NA18504, NA19704, NA18487, NA19347, NA20774, NA20828, NA19332, NA18988, HG00329, HG01070, NA20813, NA19789, NA18606, HG01094, NA12891, NA18582, NA19921, NA20537, NA19078, NA19403, HG00138, NA12889, NA18631, NA18577, NA12878, NA20507, NA18548, NA11992, NA12842, HG00422, NA19198, NA19130, NA19240, NA20768, HG00324, NA19079, NA19473, NA18615, HG00671, HG00271, HG00126, NA07000
Known GenesFAM101A, ZNF664-FAM101A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669580
Frequency
Sample Size1151
Observed Gain0
Observed Loss132
Observed Complex0
Frequencyn/a


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