A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611782



Internal ID6998686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:642718..643674hg38UCSC Ensembl
Innerchr7:642718..643674hg38UCSC Ensembl
Outerchr7:642390..643991hg38UCSC Ensembl
chr7:682355..683311hg19UCSC Ensembl
Innerchr7:682355..683311hg19UCSC Ensembl
Outerchr7:682027..683628hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38957
hg19957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12657908, essv12657817, essv12657922, essv12657868, essv12657933, essv12657885, essv12657897, essv12657850, essv12657821, essv12657854, essv12657873, essv12657842, essv12657902, essv12657869, essv12657871, essv12657862, essv12657932, essv12657831, essv12657924, essv12657917, essv12657928, essv12657824, essv12657915, essv12657907, essv12657866, essv12657826, essv12657931, essv12657835, essv12657837, essv12657875, essv12657886, essv12657819, essv12657832, essv12657893, essv12657877, essv12657833, essv12657912, essv12657874, essv12657901, essv12657883, essv12657860, essv12657872, essv12657851, essv12657839, essv12657827, essv12657864, essv12657896, essv12657895, essv12657887, essv12657863, essv12657853, essv12657935, essv12657848, essv12657859, essv12657818, essv12657861, essv12657822, essv12657905, essv12657846, essv12657878, essv12657913, essv12657828, essv12657865, essv12657845, essv12657884, essv12657825, essv12657930, essv12657876, essv12657841, essv12657906, essv12657881, essv12657834, essv12657899, essv12657929, essv12657911, essv12657914, essv12657889, essv12657894, essv12657856, essv12657838, essv12657843, essv12657829, essv12657882, essv12657820, essv12657919, essv12657916, essv12657823, essv12657892, essv12657857, essv12657836, essv12657870, essv12657858, essv12657898, essv12657923, essv12657855, essv12657891, essv12657926, essv12657903, essv12657888, essv12657918, essv12657867, essv12657852, essv12657909, essv12657925, essv12657920, essv12657830, essv12657879, essv12657927, essv12657849, essv12657880, essv12657900, essv12657847, essv12657844, essv12657936, essv12657816, essv12657910, essv12657840, essv12657890, essv12657921, essv12657934, essv12657904
SamplesNA20511, HG04210, HG02614, HG03096, HG03366, HG02610, HG03484, HG01098, HG02583, NA12286, NA19466, NA19399, NA20899, HG02419, NA12751, HG03298, NA19190, NA20356, HG03199, HG03095, NA19446, HG03436, NA19379, HG04038, HG02811, HG03385, NA20774, NA19198, HG03485, NA19131, HG03578, NA19457, HG03911, HG02816, HG02562, HG03520, NA19235, HG02642, NA19317, HG03995, NA19036, HG00637, NA19239, HG03583, HG03832, NA19200, HG03169, HG03343, HG03120, HG02820, NA19210, NA19707, HG03511, HG03644, HG02334, NA18933, HG04107, HG02511, HG02449, HG01882, HG02554, HG03428, HG03775, HG03575, HG01345, HG02968, HG02878, NA18907, HG03967, HG03123, HG01512, HG03858, HG02577, HG02604, NA19031, HG03451, NA19338, HG01890, NA19318, HG04159, HG03354, NA19160, HG02675, HG03653, NA19017, NA19321, NA19108, HG03437, NA19712, NA19380, HG03259, HG03469, HG02464, HG04003, HG03103, HG03084, NA18501, HG03432, HG03039, NA19438, NA21102, NA19713, NA19093, NA19185, HG02679, NA19213, HG01468, HG03538, HG03470, HG02681, HG02051, HG00372, NA19030, HG03445, NA19129, NA19316, HG03072, NA18522, HG03198, HG03118, HG03303
Known GenesPRKAR1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611782
Frequency
Sample Size2504
Observed Gain0
Observed Loss121
Observed Complex0
Frequencyn/a


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