A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662950



Internal ID2896037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21894539..21894641hg38UCSC Ensembl
chr12:22047473..22047575hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5398061, essv5944785, essv5414432, essv5788906, essv6570110, essv5495614, essv5613171, essv5912617, essv5539232, essv6044208, essv5607656, essv6360640, essv5967452, essv6027690, essv5942918, essv6086410, essv6484474, essv5472389, essv6568781, essv5926476, essv5584907, essv6289825, essv6109976, essv6462960, essv6165606, essv5804373, essv5528748, essv5523934, essv5407397, essv6168362, essv5629310, essv6145302, essv5961167, essv6101629, essv6062522, essv6475713, essv6240995, essv5791224, essv5410008, essv6152960, essv5620120, essv5539069, essv5452039, essv6088360, essv6570273, essv6119348, essv5607984, essv5660838, essv6196018, essv6257931, essv5870159, essv6523758, essv6050131, essv5951854, essv6157125, essv6418511, essv6264746, essv5519207, essv5790487, essv6584785, essv6076924, essv5739594, essv6580276, essv6096219, essv5482862, essv6114879, essv5904001, essv5539446, essv6293674, essv5743053, essv5512167, essv5641951, essv6314261, essv6265512, essv6575919, essv5791469, essv5635855, essv6481579, essv6317087, essv5693015, essv6340536, essv5766501, essv6082706, essv6007602, essv5448563, essv6136351, essv6012387, essv6503813, essv5666558, essv6229448, essv6306364, essv6331743, essv5781172, essv5943979, essv6398816, essv5403158, essv5900529, essv6020224, essv5898820, essv6141258, essv5841355, essv5628321, essv6243809, essv5966827, essv5476003, essv5976026, essv5415162, essv5714535, essv5431241, essv6107082, essv5464040, essv6405544, essv6578992, essv5602960, essv6323876, essv5684239, essv5459760, essv5498863, essv6136592, essv6256226, essv5786918, essv5624174, essv5492400, essv5806125, essv6491358, essv5806163, essv5962467, essv6192320, essv5840213, essv6384948, essv6297774, essv5682960, essv6029487, essv6030348, essv5496578, essv5541104, essv5916171, essv5754178, essv6521405, essv5948655, essv6321094, essv5415324, essv6002338, essv5849392, essv6156927, essv5600846, essv6417853, essv5405503, essv5495395, essv5869540, essv5821200, essv6376590, essv6059200, essv5794240, essv5493419, essv6181749, essv6410062, essv5475347, essv5633842, essv5967012, essv6239031, essv6048767, essv5855167, essv5494496, essv6239693, essv6219455, essv6251736, essv5421654, essv6563039, essv5730399, essv5420215, essv6460786, essv6126706, essv5583836, essv6367553, essv6441269, essv6346810, essv6555517, essv6370174, essv5696737, essv6314073, essv5795934, essv5493999, essv6196481, essv6030487, essv6102619, essv5914317, essv6100141, essv6414913, essv6372167, essv6096405, essv5410594, essv6220784, essv6513842, essv5693338, essv6595389, essv5796726, essv5893426, essv5653126, essv6124549, essv5869906, essv5452970
SamplesHG00323, NA12827, NA18621, HG00309, NA18964, HG01515, HG00313, NA12489, HG00152, HG00537, NA12249, HG00318, NA07347, NA12750, NA20787, HG00257, NA18595, NA19904, NA18534, NA20503, NA18630, HG00418, NA12286, HG01075, HG00551, NA12342, NA19404, NA18523, NA19114, NA07056, NA18874, HG00437, HG01173, NA18612, HG00274, HG00464, NA12347, NA18501, NA19093, HG00736, HG00310, NA18570, HG00261, HG00707, NA18511, NA19223, NA19455, NA20294, NA20296, NA19670, HG01197, HG01365, HG00117, NA20816, NA18517, NA20529, NA19449, HG00148, NA19920, NA18542, HG00553, HG01350, HG00139, NA18507, HG00698, NA20588, NA19648, HG00280, HG01168, NA19682, NA11893, NA19108, NA19701, NA19355, NA19474, HG00737, HG00253, NA12287, NA18873, HG01171, NA19776, NA18596, NA19438, NA18868, HG01133, HG00321, NA19428, NA18508, NA19239, HG00421, HG00308, HG00337, HG00140, NA12155, NA18576, NA18960, NA19471, NA20504, HG00610, HG01061, HG00692, NA20807, NA19396, NA18592, NA18856, NA20127, NA19066, NA11933, HG00419, NA19256, NA18916, NA19658, HG00276, HG00284, HG00237, HG00343, NA18539, NA12751, NA19190, NA19213, NA19676, NA20769, HG00108, NA12892, NA20536, HG01066, NA20126, NA20795, NA18486, NA19102, HG00263, HG00559, NA19238, NA18502, NA19731, HG01073, NA19664, HG00282, NA19704, HG00249, NA18564, NA18858, HG00277, HG01351, NA19332, NA18613, NA20542, HG01070, HG00246, HG01060, NA19711, NA19789, NA18945, NA18606, NA19235, NA10851, NA18582, NA18999, HG00427, HG01190, NA18552, NA19138, NA18909, NA19719, NA20509, HG01390, NA12878, NA20507, HG00530, HG00285, NA19225, NA11993, NA12546, NA19655, NA18499, NA18571, NA19198, HG01108, NA18984, HG00693, HG01125, NA19240, HG00275, NA12717, NA20528, NA18532, NA18853, HG00137, HG01462, NA18908, HG00626, HG01377, NA20502, HG00272, NA19092, HG00136, NA19065, NA07000, NA12775, NA19058, NA19466, HG00327
Known GenesABCC9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662950
Frequency
Sample Size1151
Observed Gain0
Observed Loss202
Observed Complex0
Frequencyn/a


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