A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674411



Internal ID9940516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110408849..110409011hg38UCSC Ensembl
chr13:111061196..111061358hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6086024, essv5984973, essv5717917, essv6019920, essv6583518, essv5419510, essv6141639, essv6567148, essv5634704, essv5515514, essv6182503, essv6318412, essv6014290, essv5991170, essv6099668, essv6439669, essv5941579, essv6325358, essv5583519, essv5779897, essv6222356, essv5506531, essv6189759, essv6207091, essv6299083, essv6266351, essv5900957, essv5653664, essv5485847, essv6464376, essv6114447, essv5426174, essv6171873, essv6414569, essv5915813, essv6180060, essv6521570, essv6473098, essv6528146, essv6113752, essv6455701, essv5772730, essv5835901, essv6064957, essv5796547, essv6537702, essv6540294, essv6144799, essv5930773, essv6048047, essv6193707, essv5485040, essv5842442, essv5661114, essv6205581, essv6436294, essv5784242, essv6433025, essv6337053, essv5402732, essv5943921, essv5836418, essv6211748, essv5928636, essv5855758, essv5665130, essv6189425, essv6546733, essv5407813, essv5829790, essv6532128, essv6575174, essv5988019, essv5608754, essv5588808, essv5976510, essv5423295, essv6384215, essv6183200, essv6251949, essv5711597, essv6556441, essv6088855, essv5888986, essv5450024, essv6050513, essv6514529, essv5532925, essv6593510, essv6028678, essv6388183, essv5790576, essv6233475, essv5933602, essv5473067, essv5614788, essv5894984, essv5988905, essv5893139, essv5397494, essv5484001, essv5997755, essv6184445, essv6466024, essv5670779, essv6268544, essv6521744, essv5504623, essv5827920, essv6339227, essv6108419, essv6006645, essv6407096, essv6447461, essv6300733, essv6035035, essv6515831, essv6337447, essv5717077, essv5645271, essv5405864, essv6374926, essv5853399, essv5699512, essv6457967, essv5466908, essv5914322, essv6406244, essv5419186, essv5969846, essv5454849, essv6351814, essv6468431, essv6404601, essv5518813, essv6042243, essv6562627, essv5491965, essv5443886, essv5682670, essv6024846, essv5744017, essv5420659, essv5572559, essv5705375, essv6196859, essv5497434, essv6192271, essv6594378, essv6494791, essv6031155, essv6142612, essv6006163, essv6376017, essv5934357, essv5947615, essv6456168, essv5678700, essv5557946, essv6093609, essv6130253, essv6576259, essv5753751, essv6289593, essv6343422, essv5556379, essv5491319, essv5842596, essv6444960, essv5541226, essv6564774, essv6400876, essv5659808, essv5730754, essv6136181, essv6335682, essv6103265, essv5539766, essv6441981, essv6550829, essv6333972, essv6064096, essv5665199, essv5544449, essv6062454, essv5856121, essv5748597, essv6193403, essv5568381, essv6576828, essv6199962, essv5816104, essv5891075, essv5457524, essv6085142, essv6234096, essv6539368, essv5397873, essv6233274, essv5533553, essv6260700, essv5720968, essv6110705, essv6534966, essv5699942, essv6212058, essv6037398, essv5540423, essv5998848, essv5576535, essv6080568, essv6027225, essv5672564, essv5606804, essv5730061, essv6404147, essv6140085, essv5923911, essv5968988, essv5757505, essv6378693, essv6143918, essv6484684, essv6406307, essv5760738, essv6481590, essv5741525, essv6203984
SamplesHG01060, HG01441, HG00650, HG00542, HG00442, HG01173, HG00536, HG00608, NA18621, HG00249, HG00671, HG00524, HG01052, NA18561, HG01188, NA18599, HG00257, HG01389, HG01374, HG00315, HG00318, HG00699, NA18545, NA12004, NA18596, NA18530, NA18606, HG00654, HG01051, NA18633, NA20771, NA18602, HG00693, HG00337, HG00327, HG00271, HG00663, HG00138, HG01350, NA18550, HG01366, HG01070, HG00589, HG00251, HG00501, NA18597, HG01351, NA18595, HG00702, HG00689, HG00448, NA18635, NA18558, HG00330, NA18547, HG01492, NA11992, HG00346, NA18582, HG01354, NA18571, HG01083, HG01365, HG00334, NA18964, HG00537, HG00590, NA18611, HG00512, HG00281, HG00139, HG01069, HG01067, HG00683, HG00335, HG01170, HG00236, HG00325, NA19137, HG01072, HG00232, HG00534, HG00422, HG01440, HG00309, HG00427, HG00338, NA18557, HG01048, HG00326, HG00323, HG00530, HG00419, HG00253, NA18638, HG00464, HG00108, HG01353, HG00543, HG00313, HG00137, HG00154, NA18544, NA18605, NA18613, HG00443, HG00268, HG01187, HG01171, HG00282, HG00557, HG00328, HG00428, HG00653, HG00701, HG00657, HG00475, NA19663, HG00436, HG00556, HG00320, HG00584, HG00533, HG00583, HG00344, NA18637, HG00500, HG00263, HG00275, NA18579, NA18572, NA18534, HG00619, HG00708, HG00692, NA18548, HG00740, HG01390, HG01047, NA18566, HG01102, HG00324, HG00284, HG01073, NA18573, HG00273, HG00651, HG00690, HG00531, HG00479, HG00684, NA18532, HG00613, HG00525, HG00321, HG00140, HG01334, HG00704, NA12144, HG00463, NA18536, HG00246, NA18570, HG01107, HG01204, NA18576, NA18546, NA18608, NA18632, HG00476, NA18542, HG00254, HG00336, HG00285, NA18543, NA18559, HG00353, HG00580, HG00375, HG00136, HG00278, HG01375, HG00473, HG00607, HG00237, HG00319, HG01108, HG00256, HG00662, HG00418, NA18610, HG00620, HG00339, NA18501, HG00707, HG00672, HG00614, HG00111, HG00513, HG00478, HG00259, HG00421, HG00329, HG00656, NA18636, HG00310, HG00698, HG00280, HG00343, HG00274, HG00252, NA20502, HG00472, NA18989, HG01082, NA18624, HG00345, NA18623, NA18612, NA18549, NA18622, HG01437, HG01061, HG00437, NA18562, HG00581, NA18577, NA18620
Known GenesCOL4A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674411
Frequency
Sample Size1151
Observed Gain0
Observed Loss228
Observed Complex0
Frequencyn/a


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