A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663347



Internal ID9929452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77220723..77221779hg38UCSC Ensembl
Outerchr14:77220302..77222249hg38UCSC Ensembl
Innerchr14:77687066..77688122hg19UCSC Ensembl
Outerchr14:77686645..77688592hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381948
hg191948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv404e199
Supporting Variantsessv6319054, essv6235908, essv6006727, essv6586224, essv5473065, essv5868858, essv6554785, essv6371240, essv5700456, essv6401289, essv6358365, essv6338501, essv5733346, essv6417609, essv5989062, essv5577093, essv6518004, essv5940490, essv6415389, essv6311100, essv5734688, essv5781264, essv6041813, essv5827848, essv5616552, essv6008478, essv6354595, essv6157051, essv6535116, essv6186222, essv5749678, essv5744483, essv6557537, essv6313882, essv6367808, essv5665420, essv5484841, essv6266341, essv5580659, essv6543255, essv6486141, essv5656941, essv5430985, essv6314440, essv5815521, essv5903571, essv6135679, essv5941076, essv6561205, essv6100600, essv5814512, essv5647952, essv6038919, essv6000542, essv5853977, essv6275852, essv5842297, essv6357706, essv5561047, essv5754893, essv5459740, essv6141519, essv5624026, essv5496605, essv5781168, essv6114182, essv5397348, essv5596347, essv6434767, essv6252143, essv6049311, essv5831433, essv5473386, essv5446993, essv5778540, essv5970302, essv6594075, essv6386798, essv5650260, essv6443592, essv5715947, essv6550103, essv6040709, essv6543656, essv5732312, essv6256414, essv5800497, essv5532436, essv6116842, essv5589299, essv5882442, essv5480535, essv6337764, essv6487915, essv5838192, essv6271583, essv5896840, essv5990267, essv5710539, essv5511182, essv5491604, essv6362707, essv5811302, essv5694475, essv5490698, essv5985467, essv5522454, essv6474090, essv5692507, essv5710131, essv6404268, essv5854031, essv5416930, essv6204316, essv6459382, essv6308824, essv6228076, essv5661248, essv5785363, essv5510917, essv6535331, essv6085911, essv5416506, essv6436216, essv5939134, essv6085821, essv5594283, essv5996751, essv5784826, essv5618406, essv6360009, essv5653302, essv6378628, essv6161535, essv5446857, essv5861592, essv5845464, essv5532992, essv6154068, essv6532970, essv5823012, essv5603877, essv6402776, essv6223851, essv6197452, essv6121275, essv5432395, essv5874242, essv5495501, essv6363843, essv6337971, essv6337859, essv5925109, essv5501316, essv6438676, essv5825277, essv5778903, essv5480013, essv6283929, essv6459731, essv6301061, essv5949830, essv5691453, essv5685494, essv5708952, essv6191008, essv5817256, essv6315770, essv6259712, essv5395850, essv5596627, essv6557501, essv5861654, essv5524947, essv5455667, essv6406673, essv6393478, essv6142234, essv6372676, essv6339643, essv5722032, essv6181319, essv6419359
SamplesHG00626, HG00096, HG01060, HG00650, HG00542, HG00442, HG01173, HG00143, HG00536, HG00231, HG00249, HG00671, HG00524, HG01052, HG01079, HG00100, HG01188, HG00257, HG00233, HG00640, HG00244, HG00566, HG00737, HG00449, HG00654, HG01051, HG00261, HG00663, HG00641, HG00138, HG01070, HG00589, HG00251, HG00501, HG00122, HG01167, HG00702, HG00689, HG00448, HG01168, HG00736, HG00610, HG01083, HG00537, HG00590, HG00158, HG00512, HG00139, HG01069, HG01080, HG01067, HG00120, HG00683, HG00148, HG00106, HG01170, HG00236, HG00156, HG00262, HG01072, HG00232, HG00534, HG00422, HG01176, HG00705, HG00427, HG00160, HG01198, HG00159, HG01048, HG00530, HG00419, HG00253, HG00264, HG00464, HG00108, HG00260, HG00543, HG00137, HG00133, HG01183, HG00154, HG00731, HG00629, HG00443, HG01187, HG01171, HG00596, HG00557, HG00245, HG00428, HG00732, HG00653, HG00577, HG01095, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00263, HG00619, HG00708, HG00692, HG00635, HG00740, HG01047, HG01073, HG00651, HG00250, HG00690, HG00531, HG00479, HG01197, HG00684, HG01182, HG00117, HG01101, HG00613, HG00525, HG00157, HG00140, HG01334, HG00152, HG00146, HG00704, HG00463, HG00246, HG00126, HG01107, HG01204, HG01075, HG00258, HG00611, HG00476, HG00124, HG00155, HG00254, HG00119, HG01190, HG00625, HG00580, HG00734, HG00136, HG01174, HG00473, HG00607, HG00237, HG00116, HG01108, HG00256, HG00662, HG00418, HG00620, HG00125, HG00707, HG00672, HG00614, HG00111, HG00513, HG00478, HG00259, HG00421, HG00656, HG01055, HG00123, HG00112, HG00698, HG00131, HG00252, HG00472, HG01082, HG00628, HG00554, HG01191, HG01061, HG00553, HG00437, HG00581
Known GenesTMEM63C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663347
Frequency
Sample Size1151
Observed Gain0
Observed Loss183
Observed Complex0
Frequencyn/a


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