A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666543



Internal ID9585962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31799225..31801552hg38UCSC Ensembl
chr12:31952159..31954486hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382328
hg192328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6106369, essv5407955, essv6083829, essv5883384, essv5531229, essv6356681, essv5920936, essv5807849, essv6427649, essv5541871, essv6233152, essv5485093, essv5920729, essv5938235, essv6318978, essv6358811, essv5500880, essv6224681, essv5880505, essv5863924, essv5686463, essv6378708, essv6231750, essv5764190, essv6259112, essv5442788, essv5561798, essv6409813, essv5596685, essv6452392, essv5693055, essv6343357, essv5917431, essv6583515, essv6046329, essv5991380, essv6013636, essv6414151, essv6186429, essv5846814, essv5661080, essv5545047, essv6442793, essv5848525, essv5580798, essv5488778, essv6113180, essv6177133, essv5566777, essv5662346, essv6538966, essv6304097, essv6391473, essv6287633, essv5812188, essv5814015, essv6064109, essv6238160, essv6158682, essv6069757, essv5655136, essv5712159, essv5701419, essv6543615, essv5710090, essv6407376, essv6266283, essv6341280, essv5510273, essv5802160, essv6240692, essv5478909, essv5741884, essv5500101, essv5668817, essv6393024, essv6270457, essv6182934, essv6263833, essv6009033, essv5810160, essv6178294, essv6167744, essv5978115, essv5868636, essv5944111, essv6208925, essv6224662, essv6005104, essv5896960, essv6168667, essv5684758, essv5661294, essv5545443, essv5501546, essv5496877, essv5520255, essv6154936, essv6515575, essv6425672, essv5945902, essv6472244, essv6060166, essv5473098, essv6150810, essv6474076, essv6416334, essv6399111, essv6474357, essv6083093, essv5719702, essv6109086, essv5887862, essv5927372, essv5717364, essv6511654, essv6129760, essv5405743, essv5889478, essv5605893, essv6140853, essv5875849, essv5791118, essv5554427, essv6143638, essv5486524, essv6203166, essv5459826, essv5893486, essv5572070, essv6236134, essv6331494, essv5548398, essv5610896, essv6384784, essv5725623, essv6561468, essv6491913, essv6109773, essv5976888, essv5653123, essv6190627, essv6312122, essv6566789, essv5850533, essv6597433, essv6117598, essv6029774, essv5753399, essv5532582, essv6500973, essv5987103, essv6142503, essv5401395, essv6522538, essv6091916, essv6040261, essv5630499, essv5493502, essv5767519, essv5491225, essv6503874, essv6379000, essv5640003, essv6564664, essv6502218, essv6406932, essv6318882, essv5662336, essv5654091, essv6378113, essv5852473, essv5556273, essv6444452, essv6229287, essv5625911, essv5686551, essv6481464, essv5408840, essv6516263, essv6372073, essv6149681, essv5873919, essv6338907, essv6500549, essv5892760, essv5745185, essv6462236, essv6322625, essv6034027, essv5782351, essv5452095, essv5721334, essv6589882, essv5964706, essv5966418, essv5609920, essv6255435, essv6507650, essv5575359, essv6591723, essv6121121, essv5632491, essv5866008, essv6266302, essv5538572, essv6433678, essv6591053, essv5554779
SamplesHG00403, HG00189, HG00592, HG00231, NA18924, HG00608, HG00142, NA12286, NA19664, NA19204, NA18592, NA10851, HG00100, NA18507, NA18599, HG01389, HG01374, HG01066, HG00306, HG00151, NA20816, NA18603, HG00640, NA12751, HG00699, NA19355, NA18545, NA19393, NA19057, NA19377, HG00177, NA20507, HG01461, HG00654, NA19443, NA18526, HG01140, NA18988, NA18627, NA18967, NA07346, NA19396, HG00127, NA19171, NA19076, HG01350, NA19379, NA20798, NA19762, NA18595, NA19678, NA20586, NA18567, NA20795, NA18558, NA12348, NA19131, NA18916, NA18574, NA19197, NA07347, HG00346, NA19771, NA19088, HG00270, HG01365, NA19782, NA19079, NA18949, HG00590, NA11930, HG01134, HG00512, NA12282, NA19383, HG00683, NA18977, NA11994, NA19207, HG00422, NA19471, NA18986, NA20811, HG00160, NA19725, NA18990, NA18557, NA18985, NA20342, NA20757, NA18867, NA19789, NA18638, HG00464, HG01136, HG00149, NA19247, NA19437, HG00268, NA19056, HG01384, HG00557, HG00328, NA19152, HG00577, NA20521, NA20810, NA19717, NA19663, HG01498, NA19788, NA18948, HG00619, HG00239, NA19776, NA18981, HG00708, NA18907, HG01390, HG01102, HG00324, NA19461, NA11919, HG00404, NA12829, NA11893, HG00684, HG00140, NA12827, NA19338, NA19009, NA18555, HG00146, HG00704, NA19469, NA18536, HG00246, NA19625, NA18593, HG01107, NA20534, NA19436, NA18546, NA18608, NA20799, NA19729, NA20522, NA19652, NA19390, NA18909, NA18535, HG01190, NA19108, NA18952, NA19147, HG00625, NA20276, NA12775, HG00565, NA18628, NA19072, HG00278, HG01357, NA20790, HG01375, HG00473, HG01494, HG00607, NA19470, HG01113, NA19786, NA19467, HG00319, NA19083, NA18943, NA20803, NA20797, NA19783, HG00662, NA19085, NA18610, HG01489, HG00269, NA19818, NA19759, HG00672, HG00111, NA19438, NA19716, HG01055, NA20510, NA18636, NA12830, NA20786, NA18873, NA20807, NA19726, NA11843, NA20758, NA19080, NA19900, HG00377, NA20502, HG01378, NA18623, NA18549, NA19074, NA19153, NA18562
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666543
Frequency
Sample Size1151
Observed Gain0
Observed Loss209
Observed Complex0
Frequencyn/a


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