A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678900



Internal ID9945005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226424986..226425194hg38UCSC Ensembl
chr1:226612687..226612895hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6034830, essv5824056, essv6274590, essv5861344, essv5659601, essv5937208, essv6211129, essv5400261, essv5963557, essv6181625, essv6586823, essv6095635, essv5507242, essv5918211, essv6346913, essv6329491, essv6203564, essv6268067, essv6528973, essv5798751, essv6291379, essv6378324, essv6040409, essv6036063, essv6513388, essv5563471, essv6378843, essv6461840, essv5917984, essv5497744, essv5611019, essv6389095, essv6282521, essv5992791, essv6210813, essv5676034, essv6085600, essv5408485, essv5745008, essv6502113, essv5447552, essv5882188, essv6297220, essv6083140, essv5423365, essv6508528, essv6079662, essv6510246, essv5847664, essv6172525, essv6216336, essv6431071, essv6115132, essv5736427, essv5541650, essv6563899, essv5585458, essv6362053, essv5743925, essv5791287, essv6300126, essv6112551, essv5718602, essv6223126, essv5955098, essv5638394, essv5860349, essv5706506, essv6324284, essv5528900, essv6373805, essv5986417, essv5586155, essv5785424, essv5923029, essv6300528, essv6355560, essv5531568, essv6306622, essv6420283, essv6233976, essv5780909, essv5465543, essv6176981, essv5537306, essv6379446, essv6010950, essv6483915, essv5810401, essv5594852, essv5680092, essv5715941, essv6442331, essv5780226, essv5864715, essv5626643, essv5611585, essv5927770, essv5951095, essv5570438, essv6396773, essv6321002, essv5739176, essv6573293, essv6125967, essv6567123, essv5521133, essv5843707, essv6542743
SamplesNA12383, NA18502, NA19703, HG00231, NA19397, NA11829, NA18861, NA18508, HG01359, NA12273, HG01052, NA18917, NA18603, NA19819, NA18504, NA20517, NA20507, HG01051, NA19920, NA18510, NA12341, HG00337, NA19396, NA19381, HG01366, HG00272, NA18489, NA20317, NA18619, NA18558, NA20769, NA11918, NA12287, NA19138, HG01365, NA19904, NA19130, HG01134, HG00277, HG01455, HG01067, HG00335, NA18874, HG00325, HG01072, NA19372, NA19371, NA12044, NA11994, HG01048, NA12828, HG00260, NA20818, HG00154, NA19657, HG01360, HG00176, NA19707, NA12003, HG00732, NA18516, HG00320, HG00344, NA20506, NA18910, HG00273, NA11894, NA18856, NA12249, NA18532, HG01101, NA18853, NA19099, HG01334, NA19756, NA19395, HG01107, NA18576, HG00124, NA18542, HG00336, NA18517, HG00353, NA19072, HG00580, NA07051, NA12046, NA19679, HG01137, NA07037, HG01342, NA12347, HG00125, HG00111, NA20582, HG00342, NA19102, HG00280, HG00131, NA19116, NA19213, HG01377, HG01378, NA18488, NA18624, NA19463, NA18511, NA19429, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678900
Frequency
Sample Size1151
Observed Gain0
Observed Loss109
Observed Complex0
Frequencyn/a


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