A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674848



Internal ID9594267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101038996..101040030hg38UCSC Ensembl
chr4:101960153..101961187hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6566521, essv5707299, essv5587303, essv6270092, essv5849054, essv5911207, essv5419879, essv5840465, essv5870010, essv5522078, essv5753525, essv6008003, essv6526166, essv5788835, essv6254943, essv6277282, essv6536941, essv5894937, essv5890159, essv6506875, essv6156164, essv6565566, essv5462711, essv6208013, essv6256796, essv6233374, essv6465616, essv6266130, essv5911277, essv6095683, essv6184983, essv6261694, essv5663313, essv6176599, essv6301437, essv6029144, essv5874838, essv6197749, essv5722347, essv6170885, essv6058478, essv6382856, essv5929336, essv6020479, essv6266161, essv5803689, essv6209724, essv5497851, essv5442429, essv6080979, essv5992651, essv5751730, essv5864398, essv6358572, essv5826420, essv5809885, essv5642525, essv5415622, essv5565405, essv5875247, essv5750213, essv5544199, essv6300018, essv6385181, essv6550922, essv6588735, essv6333821, essv6431413, essv6112024, essv5955828, essv6493868, essv6257215, essv6397836, essv5710873, essv5989250, essv5635885, essv5515976, essv5403876, essv5760542, essv6262046, essv6297643, essv6275564, essv5888048, essv6000201, essv6455955, essv5514070, essv6155267, essv5852352, essv5861838, essv6046459, essv5837843, essv5845252, essv6312612, essv6144213, essv6150481, essv6120939, essv6479235, essv6014698, essv6266674, essv5589407, essv6205234, essv6151416, essv6305234, essv6504093, essv6167493, essv5516651, essv6329608, essv5595037, essv5479355, essv5440459, essv6334604, essv5753631, essv6197102, essv5569671, essv6474482, essv5451161, essv6393730, essv5447684, essv6283129, essv6207992, essv6418345, essv5598102, essv6451003, essv6347819, essv6516160, essv6160687, essv5446696, essv5955103, essv5583887, essv5685429, essv5593881, essv6076442, essv5678010, essv6432287, essv6239911, essv6335305, essv5699405, essv5422970, essv6172482, essv5971251, essv5857509, essv5492258, essv5681737, essv6570047, essv5453091, essv5736746, essv5730558, essv6239699, essv5618145, essv5826030, essv5941643, essv5482845, essv5853205, essv6148480, essv5954094, essv6517561, essv5999171, essv6269701, essv5558964, essv5728064, essv6269844, essv6549074, essv6489896, essv5707628, essv5874009, essv5597410, essv5906277, essv5620138, essv6481861, essv6414314, essv6587216, essv6221036, essv6578164, essv5657018, essv5720151, essv6158001, essv6004000, essv5450870, essv6330630, essv6119988, essv6459168, essv5581106, essv6105156, essv6249381, essv5842870, essv6025458, essv6451071, essv6446335, essv5566829, essv6527413, essv5992932, essv5648594, essv5608410, essv5915295, essv5958364, essv6146157, essv5550872, essv5897399, essv6129437, essv5888083, essv5790966, essv6291647, essv6305715, essv6523978
SamplesHG00323, HG01357, NA19137, NA12043, NA19445, HG00734, HG01359, NA19436, HG00252, HG01440, NA07347, NA12750, HG00257, NA12748, NA20522, HG01250, NA20503, HG01353, NA18535, NA20785, HG00100, NA20506, HG00551, HG00328, HG01055, NA19437, HG00145, NA20516, NA20510, HG00274, HG00731, HG00245, NA20535, NA20508, HG00160, NA11918, NA19469, HG00261, HG01098, NA10847, NA12340, NA20775, HG01197, NA19317, HG01365, NA19334, HG00189, NA20808, NA19453, NA19451, NA12828, NA20529, HG00375, NA18608, HG00148, HG00270, HG01350, HG00739, HG01167, NA19648, HG00651, HG00280, HG01101, NA19257, NA11893, HG00177, NA19701, HG00737, NA12341, NA19472, HG00156, HG00353, NA19654, HG00247, HG00554, NA20770, HG00244, NA12414, NA20532, HG00339, HG01148, NA19428, NA11919, NA12843, NA19085, NA19076, HG01375, NA19652, NA11994, NA20811, NA19660, HG00180, HG00259, NA19443, NA19471, NA19900, NA19444, HG01061, HG00231, NA20783, HG01183, NA18636, NA19396, HG00141, NA19397, HG00315, NA19440, HG00098, NA20541, HG00419, HG00125, HG00258, NA18916, HG00174, HG00254, NA19663, HG00276, HG01187, NA12830, NA19457, HG00357, HG00237, HG00114, NA19676, NA20769, HG00306, HG00373, HG00159, NA19377, HG01437, NA19395, HG01066, NA19375, NA19393, NA20760, HG00325, NA12348, NA18486, NA06986, NA18522, NA19238, NA20753, NA12275, HG00176, NA20540, HG00239, HG01170, HG00232, HG01069, NA19704, HG00249, NA18961, HG00277, NA19332, NA19909, NA20815, HG01494, NA20582, NA19720, NA19711, NA20813, HG00236, HG00151, NA10851, NA20525, HG01137, NA19138, NA19376, NA18909, NA19201, HG01334, NA20276, NA12413, NA12889, NA18631, NA19719, NA19434, NA19755, NA19452, NA11830, NA19770, NA20810, HG00281, NA12399, NA19399, NA19655, HG00142, NA19371, NA20543, NA19470, HG00367, NA11932, NA19240, NA12717, NA19350, HG01102, NA20804, HG01377, HG01110, NA20772, HG00278, HG00136, HG01354, HG00361
Known GenesPPP3CA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674848
Frequency
Sample Size1151
Observed Gain0
Observed Loss204
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer