A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6e214



Internal ID20121429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12818031..12888946hg38UCSC Ensembl
chr1:12877893..12948772hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3870916
hg1970880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3585244, esv3585245
SamplesHG02715, HG01878, HG02666, HG01372, HG03755, HG03135, NA20887, HG02854, NA12489, NA20351, NA19031, HG00257, HG00304, NA19734, HG02272, NA20890, NA20859, HG03784, HG01942, HG02298, NA12286, NA19222, HG00100, NA21110, HG01055, HG01988, NA19437, HG03342, NA19114, HG03711, NA21114, HG01342, NA21123, HG03856, NA18501, HG01944, HG02549, HG03693, HG01506, HG03086, NA19023, HG01845, HG01927, HG01624, HG03452, NA19334, NA19331, HG03046, NA21118, NA18969, HG02002, HG03616, HG01537, HG01200, HG01350, HG03298, HG01131, NA19017, HG01344, NA18963, HG02277, HG03401, NA20314, HG03538, HG03951, HG01101, HG01961, HG01990, NA18965, HG01142, HG02323, HG02150, HG01936, HG03812, HG01950, NA12044, HG01682, HG01968, HG00479, HG00244, NA19762, NA20320, HG02259, NA18559, HG01924, HG02588, NA19726, HG02731, NA19428, NA20585, HG02981, HG04206, NA19735, HG01312, NA19652, HG02700, NA12383, HG01305, HG00358, HG00140, HG01938, NA19443, HG01048, NA21127, HG02968, NA12873, HG01572, NA18990, HG01183, NA18991, HG01124, HG03926, NA19083, HG03241, HG03007, NA19066, HG01997, HG01113, NA12400, NA18593, NA19663, HG01628, NA21144, NA19700, NA20589, HG01599, HG00584, HG03722, NA21102, HG01974, HG03757, HG02304, HG02840, HG03902, HG01111, NA19786, HG01280, HG02490, NA19771, HG02449, HG01308, HG03040, HG04161, HG01989, HG02285, NA19024, HG00185, HG00176, HG01369, HG02501, HG01967, NA20814, HG01676, HG01923, HG02266, NA20828, HG02147, NA18613, HG04093, HG03823, NA19789, HG02299, HG01921, HG02026, HG00120, HG01933, HG01979, HG02345, HG02406, HG04235, HG01565, HG03028, NA10851, HG00445, HG01162, HG02301, NA19038, HG01326, HG03888, NA18983, NA18567, HG01971, HG01939, HG01953, HG04019, NA12413, HG03238, NA19741, HG03267, NA19431, HG01893, NA19747, HG03815, NA19755, NA18614, NA19475, HG01412, HG02252, HG01802, NA19740, NA12546, HG01323, HG01947, HG02464, NA19732, HG04177, HG02271, HG01251, HG02286, HG03060, NA18611, HG01177, HG01498, HG01892, NA12717, NA12874, HG00442, NA18981, HG01102, HG01462, HG04006, HG01377, HG03837, NA06994, NA19087, HG01932, HG03730, HG00278, NA19661, HG01863, HG00126, HG01980, HG03950, NA19746, HG01354, HG01578, HG02282
Known GenesHNRNPCL1, LOC649330, PRAMEF11, PRAMEF2, PRAMEF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv6e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss237
Observed Complex0
Frequencyn/a


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