A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678936



Internal ID9945041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:34227828..34228153hg38UCSC Ensembl
chr11:34249375..34249700hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5697663, essv5460477, essv6463359, essv6055993, essv6507610, essv6339076, essv5570778, essv5693128, essv6246057, essv6166132, essv6510055, essv6259288, essv5844607, essv6460986, essv5429430, essv6267230, essv5645491, essv5858703, essv6440682, essv5419330, essv6060431, essv5737702, essv6004615, essv5594715, essv6159134, essv5924852, essv5876351, essv6406583, essv5731894, essv5474616, essv5819163, essv5613286, essv6397772, essv5837021, essv5467979, essv5892893, essv6382008, essv6534802, essv5777961, essv5830454, essv5397154, essv5431715, essv5964506, essv6559433, essv6187773, essv5763865, essv6423861, essv5791883, essv6573618, essv6521616, essv6168268, essv5880179, essv5805655, essv6148176, essv6001865, essv5871155, essv6075802, essv6022795, essv5592852, essv6123389, essv6392881, essv5438225, essv5992475, essv6534999, essv6033647, essv5799189, essv6020178, essv5887060, essv5935884, essv6362294, essv5411218, essv6404713, essv5916269, essv5752096, essv6504989, essv6298146, essv5967701, essv6147415, essv5490105, essv5770393, essv5577793, essv6102860, essv6143226, essv6114049, essv5472223, essv6107116, essv6398252, essv5651516, essv5556360, essv5408061, essv6322792, essv5734035, essv5892016, essv5888393, essv5657932, essv5624889, essv6289862, essv6451140, essv6180731, essv5553128, essv5422603, essv5689566, essv6257958, essv5528263, essv5695535, essv5439213, essv5676555, essv6090930, essv5516068, essv5857150, essv5567273, essv6272842, essv5820595, essv6258826, essv5531165, essv6157470, essv6527433, essv6170111, essv6070787, essv6570518, essv6070759, essv5512369, essv6096890, essv5454564, essv6101806, essv6453920, essv6233002, essv5822408, essv5825596, essv6044381, essv5987223, essv6275028, essv6333277, essv5652750, essv5573633, essv5561593, essv5799443, essv6173017, essv5598572, essv5797333, essv5950616, essv5686116, essv5836310, essv5989131, essv6147539, essv5811007, essv6301306, essv5538081, essv6544102, essv6594949, essv6152449, essv5470976, essv6463734, essv6011013, essv6586341, essv5751432, essv5964899, essv6337227, essv5660431, essv5940460, essv6260226, essv5679524, essv5493211, essv5452263, essv6325023
SamplesHG00650, HG00442, HG00608, HG00249, HG00524, HG01052, HG00100, HG00257, HG01389, HG01374, HG00315, HG00318, NA19777, NA18596, NA19684, NA18530, HG00449, HG01051, HG00693, HG00337, HG00327, HG00663, NA19746, HG00138, NA19660, HG01366, NA18597, NA19762, NA19728, HG01351, NA19678, HG00702, HG00689, NA18635, NA18574, HG00346, HG01354, NA19771, HG01083, HG01365, NA19681, HG00185, HG00537, NA19079, HG00590, HG00158, HG00139, HG01069, NA19651, HG00683, HG00335, HG01170, HG00236, HG00325, NA19719, HG01072, NA19731, HG00534, HG00422, HG00182, NA19722, HG00427, NA18990, HG01133, HG00323, HG00419, HG00253, NA19789, HG00464, HG01353, HG00543, NA18544, NA19657, HG00268, HG01171, HG00282, NA19077, HG00428, HG00653, HG00657, HG00475, NA19663, HG00436, HG00320, HG00584, HG00583, NA19788, NA18534, HG00619, NA19776, HG00708, HG00692, HG01390, NA19654, HG00324, HG01073, NA19774, HG00250, NA19655, HG00690, HG00404, HG00531, HG00684, NA19750, HG00613, HG00140, HG01334, NA19761, HG00276, NA19452, HG00704, NA19682, NA19756, HG00246, NA18634, NA19675, NA19685, NA19729, HG00254, HG00285, NA18543, NA19749, NA19747, HG00580, HG00375, NA19732, HG00278, NA19773, HG01375, HG00237, NA19679, NA19786, HG00319, HG00256, NA19783, HG00662, NA18610, HG00620, HG00339, HG00269, NA19759, HG00672, HG00111, HG00513, NA19779, HG00421, HG00329, HG00656, HG00342, NA19716, NA18636, HG00698, HG00280, NA19726, NA19780, HG00343, HG00274, NA19661, NA19755, HG01082, HG00345, NA18549, HG00437, HG00581, NA19676
Known GenesABTB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678936
Frequency
Sample Size1151
Observed Gain0
Observed Loss165
Observed Complex0
Frequencyn/a


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