A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7e214



Internal ID22755901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12841517..12861395hg38UCSC Ensembl
chr1:12901370..12921250hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3819879
hg1919881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3585248, esv3585249
SamplesNA18745, HG01485, HG00189, HG01850, HG01402, NA19058, HG04096, HG02072, HG03378, NA18621, HG03228, HG00102, NA18947, HG00671, NA18647, NA18861, HG00559, NA18565, NA12414, NA21099, HG03753, HG00766, HG02122, HG02029, HG03717, HG02727, HG00457, NA20802, HG02012, HG00729, NA18639, NA12751, HG02804, HG03521, NA21137, NA19684, NA18616, HG02154, HG02356, NA21128, HG03679, NA19067, NA18602, HG00663, NA18563, HG03133, HG01873, NA19089, HG03645, NA18940, HG03770, HG02016, HG02185, HG02069, HG02140, HG02156, HG00599, NA21130, HG03091, NA18923, HG02840, HG02756, HG00238, HG01492, NA18574, HG04182, NA11918, HG03978, HG01840, HG00334, NA19079, NA18949, NA11930, HG00130, HG04183, HG00867, HG00148, HG02389, HG02187, HG03691, HG01849, NA18748, HG02642, HG02082, HG00705, HG02190, NA18990, HG01844, NA18557, HG02409, NA18539, HG02164, HG01851, NA18645, HG03697, HG01847, HG01867, NA19091, HG00282, NA19056, NA18525, HG04146, HG04039, HG02380, NA21119, HG03990, HG00657, NA20760, HG03928, NA19043, HG02144, HG03491, HG01768, NA18579, HG02522, HG03159, HG03081, HG02165, NA18534, HG00692, HG03472, NA18573, HG00250, NA18626, HG00531, NA19042, HG01870, HG03802, HG03388, HG02121, HG03631, HG02309, NA20856, NA06989, HG02881, HG01130, NA18553, HG03953, HG02601, HG03969, HG00146, HG00704, NA18531, HG04176, HG00864, NA18570, HG02594, HG02127, NA18541, HG00376, HG01812, NA20851, HG04025, NA19390, HG01597, HG04026, NA18564, HG01874, NA19090, HG02391, HG02232, HG01375, HG02982, HG01866, HG02580, HG02137, HG02019, HG00662, NA18610, HG02188, HG03973, HG02558, HG00620, HG00339, HG02133, HG01861, NA20906, HG00614, HG02379, HG02128, HG00513, HG02095, NA18631, HG01868, NA19779, HG02079, HG00342, HG01846, HG02116, NA18636, NA18609, HG01600, HG02182, NA19116, NA19080, HG03872, HG00728, HG01794, NA18957, HG02020, HG00628, NA18623, HG02351, NA19065, NA18740, HG02643, NA18612, HG01805, HG01786, HG00581, NA18577, HG00593, NA18997, HG00626, NA18998, HG03773, HG03800, HG03857, HG00592, HG01795, HG02250, HG01356, HG00536, NA18924, HG01303, NA20877, HG01438, NA18592, HG00351, NA19914, HG01860, HG01855, HG04211, NA18599, HG03558, HG02360, NA19092, HG00699, HG03190, NA19393, NA12004, HG02058, HG00452, NA18596, HG00566, NA18625, NA18606, HG03667, HG00879, NA19190, NA18526, HG02895, HG01809, HG03680, HG00622, HG03235, NA19005, NA18550, HG02153, HG03705, HG03640, NA20861, HG01853, HG01064, HG03490, HG02491, NA18982, NA19198, NA18619, NA19916, HG00458, HG01710, HG00634, HG02130, HG01816, HG00610, NA18642, NA19088, NA20513, NA18964, HG02786, NA12761, HG03209, HG02395, HG02512, HG02067, NA20896, NA18977, NA18560, NA19075, NA18617, HG00422, HG03777, NA12815, NA19002, HG02138, HG02180, HG03369, HG00530, NA18638, HG00739, HG00675, NA20818, NA10847, HG00543, HG01136, HG00560, HG03785, HG00183, HG00982, HG01797, HG03787, NA12003, NA18644, HG02397, HG00475, HG02108, NA19236, NA20895, HG00436, HG00500, NA20126, HG01852, HG02555, NA18566, HG03742, NA19000, HG03858, HG02494, NA18946, NA19001, HG02086, HG00613, HG00525, HG00157, HG02081, HG04152, HG02725, HG01890, HG03354, NA18536, HG00410, HG01596, NA20296, NA21113, HG00476, HG03866, NA18535, HG03240, HG00285, NA18961, NA18952, NA18543, NA18950, HG00375, HG01915, HG01800, NA18941, HG00623, HG00308, NA18992, HG01598, HG00631, HG00607, NA18629, NA19085, HG02181, HG02398, HG00707, NA18971, HG00446, HG01917, HG00409, HG03896, HG03049, HG02032, HG00656, HG01783, NA18994, HG02392, HG02462, HG03916, NA19096, HG01872, NA18972, HG02051, HG00252, NA18984, HG00472, HG02861, HG04056, NA18622
Known GenesHNRNPCL1, LOC649330, PRAMEF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv7e214
Frequency
Sample Size2504
Observed Gain392
Observed Loss0
Observed Complex0
Frequencyn/a


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