A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668838



Internal ID9588257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73203803..73204115hg38UCSC Ensembl
chr2:73430931..73431243hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6565574, essv5974005, essv6527982, essv5574502, essv6209581, essv5992172, essv6479418, essv5829866, essv6595731, essv5457111, essv6573302, essv6029758, essv6416332, essv5842555, essv5635228, essv6065522, essv5978470, essv6231626, essv5404976, essv6108291, essv5875999, essv6484803, essv6291122, essv5787625, essv5813175, essv6184731, essv6379027, essv6353490, essv6433133, essv6075497, essv5831338, essv6591747, essv6576824, essv6490607, essv6107699, essv6173066, essv6529615, essv6284951, essv5533276, essv6163790, essv6048861, essv6414163, essv5764111, essv5601695, essv5493997, essv6348257, essv6331916, essv5454776, essv6141617, essv5681858, essv5928444, essv6437136, essv6057293, essv5543151, essv6088697, essv6560224, essv6581605, essv5913088, essv5766653, essv5461941, essv6101012, essv6268210, essv5728268, essv5967802, essv5404577, essv5836890, essv5587743, essv6576200, essv5873058, essv5995809, essv6524177, essv6474639, essv5610203, essv5857947, essv6060294, essv5471420, essv5937966, essv6445647, essv5752867, essv6094098, essv6055119, essv5471011, essv6132714, essv5967300, essv5682676, essv6548823, essv6538263, essv5657936, essv6279750, essv5607915, essv6429376, essv5734856, essv5591028, essv5710272, essv6156361, essv6283363, essv5684793, essv5680348, essv6370510, essv5981647, essv5767438, essv5500068, essv6011172, essv5708195, essv5701436, essv6524158, essv5979419, essv5850618, essv5643927, essv6395505, essv5404914, essv5398960, essv5473156, essv5868860, essv6100916, essv6181537, essv6556589, essv5548900, essv5577281, essv6401506, essv5430711, essv5492166, essv6009670, essv5853906, essv6342025, essv5843081, essv5514534, essv5770801, essv6280275, essv5792746, essv5821816, essv5629503, essv6427670, essv6106913, essv5666136, essv6477593, essv5833653, essv6529733, essv6230939, essv6148725, essv5663655, essv5498890, essv5572097, essv5752472, essv5407565, essv6356029, essv6358457, essv5921772, essv6534804, essv6055317, essv6267937, essv6360218, essv5937033, essv6397247, essv6518777, essv6365940, essv5744310, essv5937858, essv6235327, essv6337182, essv6233044, essv6344646, essv5933329, essv6371071, essv6223635, essv6002744, essv5942756, essv6160683, essv5952898, essv6427707, essv5502818, essv6132484, essv5791311, essv6215564, essv6096058, essv5648863, essv6059622, essv6010107, essv5593604, essv5828398, essv6565017, essv6223897, essv6246936, essv6018586, essv6164847, essv5459089, essv6245266, essv5851898, essv5933032, essv6199251, essv5667559, essv5768428, essv6412716, essv6579791, essv5965690, essv6390892, essv5694042, essv6301574, essv5541020, essv5629373, essv6373381, essv5443442, essv6537794, essv6325511, essv5576664, essv5937197, essv6514550, essv6106381, essv6112098, essv6159074, essv5890730, essv6383014, essv6410501, essv6435657, essv5687609, essv6224132, essv6394388, essv6252459, essv6469876, essv6064020, essv5458717, essv5779405, essv5787510, essv5574145, essv5813290, essv5902707, essv5901458, essv6155668, essv5736961, essv5467575, essv6299760, essv6280328, essv5641861, essv6378963, essv5549799, essv5777508, essv5516047, essv5997884, essv6024074, essv5672938, essv5652234, essv5588906, essv6430140, essv5677177, essv5444391, essv6347073, essv5605227, essv6508417, essv5759317, essv5546827, essv5881342
SamplesNA19394, NA12383, NA18502, NA12717, NA19703, NA19909, NA18947, NA19204, NA18861, NA18508, NA19399, NA12273, NA12414, NA12843, HG00257, HG00315, NA19350, NA19359, NA12751, NA19355, NA18504, NA12340, NA20332, NA18959, HG00449, NA19443, NA18510, NA12399, NA12813, NA19171, NA19379, NA18940, NA20798, NA18558, NA18960, NA11918, NA07347, NA18582, NA19457, HG00334, NA19130, HG00158, HG00281, HG00139, NA12275, HG01080, NA18868, HG00232, NA19372, NA19238, NA12044, NA11994, NA19207, NA19172, HG00160, NA19239, HG01133, HG00326, NA20757, HG00253, NA19921, HG01124, NA12489, HG00731, NA19403, NA12878, NA20760, NA19455, NA18871, NA18948, NA18981, HG01047, HG00324, NA19461, NA11919, NA20581, NA19453, NA06989, HG01101, HG00140, NA19099, NA19452, NA18523, NA19469, HG00246, NA19625, NA18858, NA18593, HG01107, NA18974, NA20799, HG00254, HG00265, NA18517, NA19712, NA19434, NA19444, HG01357, HG00237, NA19428, NA18943, NA19360, NA12347, NA18501, NA06994, HG00259, NA19468, NA18609, HG00310, NA19102, NA19116, HG00377, NA20502, NA19316, NA19312, NA18968, NA12006, NA19463, NA19429, NA19346, NA18487, HG00581, HG01060, NA11830, NA19700, HG01098, NA19397, NA18924, HG00249, NA11995, NA11829, HG01359, NA19914, NA19332, NA18980, HG01079, NA18561, NA19704, NA18507, HG01188, NA20813, NA18603, NA12045, NA18486, HG01465, NA19819, NA12058, HG00177, NA20507, NA19190, NA19098, NA18870, NA18967, NA19396, NA19381, NA19005, HG00251, NA19201, NA19382, NA18489, HG01488, NA19119, NA12891, NA19916, HG00330, NA19131, NA18942, HG00346, HG01354, NA19313, NA19088, NA12287, NA19138, HG00369, NA18498, NA20513, NA18611, NA19404, HG00277, NA19383, HG00236, HG01495, NA19137, NA19317, NA19159, NA19901, NA19189, NA18520, NA19209, NA19445, NA18975, NA18908, NA18973, NA19451, NA19200, NA11993, NA11831, HG01353, HG00313, HG00133, NA19210, HG01187, HG01384, HG00328, NA19152, NA18956, NA19391, NA18516, NA18910, NA18976, HG00273, NA19114, NA19449, NA18499, NA18856, NA12249, NA18853, NA19257, HG00276, NA19225, NA19160, NA20765, NA19685, NA19401, NA18909, NA19834, NA19108, NA18952, HG00357, NA19435, NA19240, NA19380, NA19144, NA19439, NA19467, HG00125, NA19818, NA19376, NA19398, NA20348, NA18971, NA12749, HG00186, NA19726, NA19213, NA18972, HG00252, NA18505, NA19755, NA19153, NA18965
Known GenesNOTO
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668838
Frequency
Sample Size1151
Observed Gain0
Observed Loss251
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer