A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675308



Internal ID9594727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:104833906..104834822hg38UCSC Ensembl
chr9:107596187..107597103hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38917
hg19917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1366e199
Supporting Variantsessv5673230, essv6048526, essv5547893, essv6363142, essv6530170, essv5953903, essv6554413, essv6355858, essv6242492, essv5909705, essv5841236, essv6547291, essv5819510, essv5914482, essv5945390, essv6205501, essv5608873, essv6104594, essv5969260, essv5875523, essv6470383, essv6117467, essv5629826, essv6014016, essv6085012, essv6215293, essv5529689, essv6429010, essv5937159, essv5438248, essv6443052, essv6496769, essv6120188, essv5811965, essv5909178, essv6002203, essv6535640, essv6103665, essv6318766, essv5418474, essv6365675, essv6405482, essv5614393, essv6193147, essv6303958, essv6176378, essv6505319, essv6441342, essv6567028, essv6296213, essv6344767, essv5865500, essv5694197, essv5815055, essv6293393, essv5985857, essv5688909, essv6320797, essv6141511, essv5517882, essv5492553, essv6557391, essv6487587, essv6163294, essv6495882, essv5492677, essv6085808, essv6409095, essv6133621, essv6457236, essv6561512, essv6424865, essv6425047, essv5465153, essv5730353, essv6374058, essv6581919, essv5956444, essv5924649, essv5970908, essv5998625, essv5500680, essv6184272, essv6153448, essv5942350, essv5571695, essv5854756, essv6125065, essv6332033, essv6343346, essv6370166, essv5911025, essv6161256, essv6451734, essv5560630, essv6368751, essv6458036, essv5702545, essv6150859, essv6451444, essv5773504, essv5409622, essv5888085, essv6142722, essv6563532, essv5677707, essv6195972, essv6167625, essv6142160, essv5683200, essv5743986, essv6346876, essv5431761, essv5589847, essv5792990, essv5524231, essv6504066, essv5734435, essv5494116, essv5952161, essv5913408, essv5877976, essv6189022, essv6160614, essv6562377, essv5535333, essv6466243, essv6218228, essv6276914, essv5907944, essv6477657, essv5928462, essv6534276, essv6160930, essv5935741, essv5473274, essv6418273, essv6349660, essv5943999, essv6282189, essv6036439, essv5768293, essv5664885, essv5653358, essv6398937, essv6160058, essv5423893, essv6260703, essv5999896, essv6259037, essv6266611, essv5816193, essv5621290, essv6533123, essv5846209, essv6236911, essv5553597, essv5712777, essv5767687, essv5641307, essv5670166, essv6578364, essv5760799, essv5986151, essv6439447, essv5728381, essv5962927, essv6358423, essv5608286, essv6587738, essv6097690, essv5771455, essv5578627, essv5966509, essv5415310, essv6289815, essv6283187, essv6098708, essv6477506, essv5571686, essv5905540, essv6325485, essv6477883, essv6579448, essv5841637, essv5880129, essv5936608, essv5447597, essv6006107, essv5998622, essv5433183, essv6547358, essv5714206, essv5404749, essv6574003, essv6131336, essv5580819, essv6581634, essv6063665, essv5752466, essv6208129, essv6254675, essv6102680, essv6576878, essv6157426, essv6342600, essv5456696, essv6589192, essv5980259, essv5968308, essv6010359, essv5775295
SamplesNA19012, NA11881, NA18621, HG00309, HG00537, HG00734, NA18605, HG00536, HG00607, HG01440, NA07347, NA19712, NA18616, NA20527, NA18534, NA18530, NA18535, NA18630, NA18871, HG00418, NA20785, NA18561, NA19081, NA19819, NA20506, HG00705, HG00437, HG01342, HG00500, HG00464, HG00565, HG00736, NA11918, NA19060, NA18570, NA19003, HG00707, NA19223, NA06989, NA12340, NA18603, NA20802, NA18948, NA19670, HG01197, HG00657, HG01051, HG00189, HG00577, HG01492, HG00428, HG00475, NA18947, HG00542, NA20342, NA18608, NA18542, NA18541, NA20539, HG00683, HG00698, NA18963, NA19685, HG00404, NA19651, HG00651, HG00557, HG00366, NA19236, HG00253, NA20755, NA19467, HG01551, NA18626, NA18628, NA19654, HG01521, HG00256, NA18632, HG00592, NA12414, NA19077, HG00543, NA18559, NA19463, HG00346, NA18624, HG00250, NA19054, NA18627, NA19076, HG01375, HG00583, NA12383, NA18566, NA18635, NA19660, NA18576, NA18622, NA18563, NA19722, NA18617, NA18990, HG00692, NA20754, NA18592, NA18638, HG00149, NA20541, HG00533, HG00258, NA18973, NA19075, NA20336, HG00634, NA19056, NA19679, NA19700, HG00343, NA19082, HG00584, HG00662, NA19000, HG00436, HG00267, HG00620, HG01111, HG01097, NA19129, NA18633, HG01066, NA20512, HG00732, NA18498, NA19716, NA20826, NA18968, NA18986, NA06986, NA18522, NA19005, NA19002, NA18941, HG00672, NA19704, NA20818, NA18564, NA18942, HG00513, NA19074, NA18945, NA18606, NA19777, HG00120, NA18543, NA18987, NA18582, NA18999, NA20581, HG01137, NA18597, HG00595, NA18552, NA18983, HG00443, NA18567, NA19391, NA19723, NA19078, HG00611, NA12749, HG00650, NA06984, HG00663, NA18631, NA18560, NA19747, NA18544, NA18602, NA19818, HG00608, NA18577, NA18614, NA19064, HG00123, HG01464, HG00281, NA19717, NA20812, HG00656, NA19655, HG00422, NA19916, HG01251, HG00693, NA18611, NA19756, NA20768, HG00275, NA20528, NA18532, NA18549, HG00473, NA20524, HG00626, NA18615, HG00476, HG00671, NA19087, HG00702, HG00704, HG00531
Known GenesABCA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675308
Frequency
Sample Size1151
Observed Gain0
Observed Loss212
Observed Complex0
Frequencyn/a


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