A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664879



Internal ID9930984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101708628..101713308hg38UCSC Ensembl
chr12:102102406..102107086hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg384681
hg194681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6262129, essv6295991, essv6492412, essv5813592, essv5864571, essv5709785, essv5780480, essv6275751, essv5661124, essv5500813, essv5437119, essv5779777, essv5653902, essv6102084, essv5828040, essv5514826, essv6357044, essv6328943, essv6212093, essv6256055, essv5758144, essv5648945, essv5712513, essv6161151, essv5882134, essv5874336, essv5615599, essv6158473, essv5834020, essv5718576, essv5857244, essv6522856, essv5551052, essv6197717, essv6141285, essv5541988, essv6519809, essv5660675, essv5732765, essv6176316, essv6277197, essv5470398, essv6451729, essv6359492, essv5879625, essv6285714, essv5415634, essv5942339, essv5750018, essv5548889, essv5800357, essv6248248, essv6578238, essv5786681, essv5952561, essv6008684, essv6284790, essv5871742, essv6592868, essv5571002, essv5799694, essv5642001, essv6014030, essv5463497, essv5901782, essv6531797, essv6352632, essv5900997, essv5413078, essv6519468, essv5804435, essv5938626, essv6439091, essv5720637, essv6167497, essv6301249, essv5886948, essv6221956, essv6364096, essv6293940, essv5609198, essv5416044, essv6035606, essv5505204, essv5925099, essv5781924, essv5642946, essv5983513, essv6337804, essv5446059, essv5594602, essv5970350, essv5738928, essv6308573, essv6065031, essv5937984, essv6487118, essv5571882, essv6331524, essv5505648, essv5687135, essv5665705, essv5512917, essv6583641, essv5966791, essv5615657, essv5581856, essv6378840, essv6480281, essv6099927, essv5824868, essv6278215, essv5862422, essv5499068, essv5766905, essv6590927, essv5619257, essv6567038, essv5540687, essv6330229, essv5911686, essv6476827, essv6062893, essv5981543, essv5971499, essv5804460, essv5623659, essv5747136, essv5744491, essv6057215, essv6523386, essv5661003, essv6540937, essv6527635, essv5566823, essv6110803, essv5897240, essv6177183, essv6103188, essv6424644, essv6306362, essv5893555, essv5810498, essv6301349, essv6475927, essv6020976, essv6538871, essv5577678, essv6045108, essv5423522, essv6176623, essv5762990, essv6188230, essv6168455, essv5456326, essv6076440, essv5844911, essv6089101, essv6084107, essv5722614, essv6321903, essv6421857, essv6392445, essv6224891, essv6075416, essv6216039, essv6186124
SamplesHG00096, HG01060, HG01441, HG01356, HG00536, HG01462, NA18621, NA19664, HG00671, NA18592, HG00524, HG01052, NA11931, HG00151, NA20816, NA18999, NA20532, NA12045, HG01465, NA19819, HG00566, NA19684, HG00179, HG00150, NA18526, NA18633, NA12399, HG01522, HG01140, NA12413, NA20537, NA07346, NA19068, HG00138, NA18550, HG01366, HG01070, HG01351, NA18982, NA18567, NA12891, NA12348, NA18960, HG00610, NA07048, NA11918, HG00346, NA18582, HG00590, NA20541, NA11930, HG00512, NA12282, NA12005, HG01069, HG01067, HG00120, HG01519, HG00156, NA18977, HG00262, NA19731, HG00534, NA19075, NA18617, NA19087, HG01440, HG00309, NA19722, NA20811, NA19725, HG00637, NA18975, HG00178, NA20755, NA18638, NA12748, NA11993, HG01124, HG00260, NA20818, HG00543, HG01183, HG00154, HG00443, NA19070, NA20787, NA19670, HG00596, NA12878, HG00190, NA18956, HG00701, NA19663, HG00584, HG00344, NA19788, NA20506, NA12718, NA18572, HG00635, NA18537, HG00250, NA19084, HG00373, NA20581, NA19750, NA18912, HG00525, HG00140, HG00152, NA20828, NA19756, NA12778, NA19675, NA18945, NA18974, NA19003, NA11881, NA19834, NA18564, HG00353, NA18628, HG00357, HG00638, NA20804, NA20520, NA19773, NA07051, NA12046, HG01174, NA20530, HG01375, HG00607, HG01137, HG00116, NA20516, NA20797, NA19783, NA12763, HG00418, NA18615, NA06986, HG00269, NA19759, HG00707, HG00513, HG00578, HG00312, NA18631, NA18609, HG00112, NA20826, NA19780, NA18552, NA20503, HG00472, NA07056, NA11892, HG01111, NA19758, NA19065, NA18612, NA19074, HG00553, HG00581, HG00593
Known GenesCHPT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664879
Frequency
Sample Size1151
Observed Gain0
Observed Loss167
Observed Complex0
Frequencyn/a


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