A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv838e214



Internal ID20122261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30060553..30066387hg38UCSC Ensembl
chr22:30456542..30462376hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg385835
hg195835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3647556, esv3647558, esv3647557
SamplesHG02140, HG02496, NA18605, HG02166, NA18616, HG02371, NA18951, HG00619, NA18534, NA18630, HG00956, HG00978, NA18966, HG00437, HG01859, NA18757, HG00464, HG00565, HG02088, HG01845, HG02152, HG02648, HG00463, HG00614, HG00475, NA18947, HG00542, NA20321, HG02029, HG03920, HG02375, HG00581, NA18963, HG00404, HG04176, HG01861, HG00699, NA18625, NA18950, HG02047, HG02133, HG01812, NA18632, HG00592, NA20320, HG00543, HG02402, HG03667, HG03941, HG03558, HG04238, NA18559, NA19067, NA18979, HG02155, HG02360, NA18624, NA18967, HG03575, NA18627, NA18992, NA19059, NA19076, HG00421, HG00583, HG01028, NA18566, NA18957, HG00406, NA18635, NA19068, NA18536, HG01865, NA18960, HG02050, NA18563, NA18618, HG02142, HG02554, HG00759, HG01595, NA19011, HG00728, HG01694, NA18991, HG00689, HG02373, NA18636, NA18592, NA19083, NA19088, HG00628, HG02016, HG02410, NA19066, HG00631, HG03464, HG03793, HG00419, HG02851, NA18547, HG02078, HG02028, NA18973, NA19075, HG00451, HG01867, HG02521, HG02356, NA18593, HG03079, NA19056, HG00284, HG00403, HG00982, HG00407, NA18634, NA18643, HG01599, NA19082, HG00584, HG03848, NA18970, HG00662, HG03742, NA18539, HG02076, HG01797, NA19000, HG00373, HG00436, HG02058, HG02392, HG00844, HG02888, NA19360, HG00159, HG00620, HG02151, NA18537, NA18620, NA18747, HG02383, NA18645, HG02127, HG04025, NA18525, HG00653, NA18572, NA18954, NA20536, HG02178, HG00766, NA18939, HG03473, HG03914, NA18498, HG04158, NA18986, HG00559, NA19005, NA19002, HG02040, HG02573, HG02623, NA18558, NA18977, HG03931, NA18941, HG02017, HG02401, HG04062, NA18748, NA18978, NA18942, NA18961, NA20815, HG02087, HG02386, NA19001, HG00524, NA18997, NA18988, HG00458, HG00525, HG00599, NA18562, NA19074, HG01894, HG02084, HG02113, NA19091, NA19307, HG00729, NA18974, NA18985, HG01598, HG02085, HG00674, HG02374, NA18606, HG02406, NA18940, NA18987, HG00590, HG00443, HG02067, NA18599, NA18567, HG00611, NA18915, NA18995, HG02182, HG01801, HG02070, HG02154, NA18740, HG01872, HG03238, HG00663, NA18646, HG01799, HG01862, NA18560, HG00409, NA18971, HG00448, NA19818, HG00608, HG02186, HG02141, HG02561, NA19064, HG01804, HG02465, HG02891, HG00656, HG03258, NA18571, HG00422, NA19006, NA20359, HG02409, HG01808, HG01855, NA18610, NA19070, HG00367, NA18984, HG00693, HG02522, HG03830, HG02399, HG02136, NA18532, NA18549, HG00442, HG02798, NA18981, NA19079, HG00626, NA18615, HG00476, HG00622, HG00671, HG01807, NA19087, HG01869, HG03730, HG04195, NA18555, NA19007, HG01863, HG02130, HG02396, HG02774, NA19065, HG03824, HG00531, HG02512, NA18629, NA18553, HG03684, NA20281, NA18964, NA18647, HG00607, HG01798, HG01846, HG02165, HG02138, HG02398, HG02116, HG02184, NA18561, HG02025, NA18975, HG01046, HG02086, HG02816, HG04159, HG02407, HG00675, HG00596, HG00879, HG03634, HG00449, NA19090, HG01794, HG02513, HG02734, NA18550, NA18570, NA19072, NA18639, NA18993, HG03313, NA18948, NA18648, NA12813, HG02048, HG00452, NA18969, NA18972, NA19010, HG04183, NA18573, NA18608, NA18542, HG00446, HG02379, HG02020, HG00701, HG03680, HG02156, NA19004, HG00557, HG03928, NA18965, HG01871, NA19084, HG04061, NA18626, HG00479
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv838e214
Frequency
Sample Size2504
Observed Gain344
Observed Loss0
Observed Complex0
Frequencyn/a


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