A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664668



Internal ID9584087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151254360..151255172hg38UCSC Ensembl
chr6:151575495..151576307hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38813
hg19813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5946966, essv5577705, essv5711912, essv6409527, essv5637429, essv6328016, essv6009156, essv5688802, essv6519099, essv5814228, essv6518994, essv5648689, essv5966965, essv6305500, essv6282645, essv6105736, essv5975498, essv5918925, essv5993838, essv5626442, essv5437391, essv6493457, essv6107271, essv5877934, essv5812434, essv6441824, essv5591890, essv6466047, essv6211559, essv6268700, essv5410018, essv6073279, essv6558478, essv6326922, essv5920823, essv5773322, essv6064455, essv5844888, essv5437937, essv6408962, essv5577332, essv6248292, essv5628392, essv5885182, essv6377979, essv5636678, essv5645114, essv5981900, essv5916294, essv5634731, essv5411840, essv6500722, essv5868411, essv6408794, essv5736032, essv6276005, essv6522747, essv5871680, essv5994854, essv5432936, essv6444227, essv5799488, essv5526319, essv6290962, essv6554381, essv6521389, essv5670653, essv6316274, essv5601980, essv5983807, essv5446163, essv6519972, essv6550719, essv6319440, essv6272702, essv5406715, essv5989975, essv5836098, essv5983593, essv5702383, essv5681227, essv5753136, essv5652261, essv5732476, essv5586879, essv6265798, essv6091440, essv6582716, essv6573390, essv6452367, essv6272988, essv5461231, essv5769211, essv5791431, essv5832005, essv6165752, essv5663467, essv5417412, essv5697890, essv6004833, essv6033512, essv6403753, essv5537236, essv6030641, essv6490002, essv6072685, essv5809166, essv5703391, essv5543743, essv6369276, essv5440876, essv6226150, essv5888194, essv6256696, essv6434438, essv6437026, essv6071854, essv5720746, essv5987934, essv5943278, essv6528724, essv5525730, essv6064008, essv5610115, essv5661460, essv6509692, essv5813341, essv6560148, essv5499907, essv6429819, essv6305061, essv5538457, essv6329910, essv5563567, essv5461694, essv6456324, essv5659571, essv5509500, essv5836037, essv5624331, essv5549754, essv6105057, essv5817075, essv6409528, essv6268081
SamplesHG00542, HG00442, NA19055, NA18947, NA11829, HG00361, NA19066, NA18980, NA18561, NA20531, NA20816, NA18545, NA19777, NA19057, NA19377, NA18530, NA20346, NA20517, NA19443, NA18526, HG01051, NA12750, NA07357, NA18988, HG00271, HG00663, HG00641, NA18944, NA18519, HG01070, NA20589, NA19678, HG00689, NA20586, HG01168, NA18635, NA20756, NA18960, NA18942, NA07048, NA12287, NA19782, NA18964, HG00537, NA18949, NA12282, NA19720, HG01067, HG00325, NA18560, NA11994, NA18986, HG00309, HG00427, HG00159, NA20755, HG01136, NA18544, NA19657, HG00443, NA19056, NA18934, NA20524, NA12003, NA19347, HG00657, NA19717, NA19236, HG00344, NA18637, HG00275, NA20519, NA19776, HG00708, HG00635, NA18548, HG00324, HG00284, NA11919, HG00651, NA19000, HG00479, NA11893, HG00684, NA18912, NA18532, NA18853, HG00276, NA18963, NA18523, NA19469, HG00246, NA18634, NA18945, NA18541, NA19012, NA19436, NA12043, HG00611, HG00476, NA18535, HG00285, NA18961, NA18543, NA19712, NA19749, NA19747, HG00565, NA18628, NA19072, HG00580, HG00375, NA20792, HG01137, HG00319, NA20516, NA20803, NA07037, NA19783, HG00339, NA19759, HG00614, NA18631, NA19472, NA19779, NA19060, HG00656, NA20334, NA20510, HG00310, NA19726, NA18552, NA18983, HG00252, NA19661, HG00595, NA18505, NA19755, HG01125, NA07000, NA19065, NA18612, NA18562, NA18965, NA20772
Known GenesAKAP12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664668
Frequency
Sample Size1151
Observed Gain0
Observed Loss145
Observed Complex0
Frequencyn/a


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