A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658066



Internal ID9577485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18131348..18131668hg38UCSC Ensembl
chr19:18242158..18242478hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6554299, essv5900380, essv6326614, essv6099406, essv6106675, essv6388488, essv6398043, essv6429040, essv6288474, essv6580716, essv6042477, essv5421203, essv5443582, essv5776707, essv6126366, essv6555847, essv5620088, essv5869459, essv5712476, essv6071929, essv6217889, essv6591993, essv6086126, essv6540562, essv5930510, essv6310659, essv6322695, essv6354254, essv6152028, essv6194336, essv6213140, essv5817973, essv6378885, essv6593012, essv5996759, essv5808166, essv5888229, essv6147909, essv5663146, essv5814168, essv6051251, essv5858174, essv6521366, essv6250994, essv5836970, essv6017681, essv5990874, essv6505784, essv6433342, essv6478312, essv6248375, essv5533710, essv6294056, essv6145152, essv6237527, essv6385155, essv5897053, essv6122031, essv5633357, essv6053981, essv6205654, essv6412471, essv6454744, essv5728227, essv5633989, essv5420991, essv5517599, essv6590862, essv5550291, essv5552251, essv6203374, essv5932018, essv5522199, essv5906901, essv6309369, essv5710919, essv6560622, essv6476314, essv6167945, essv5599627, essv5532645, essv6052322, essv6027685, essv5804434, essv5917953, essv6304845, essv6446327, essv5871773, essv6343670, essv5673216, essv5848937, essv5851495, essv6216278, essv6072843, essv5845362, essv6294543, essv6435535, essv5538177, essv5589824, essv6119599, essv5404700, essv5765070, essv6529372, essv5769666, essv5485295, essv6261631, essv6530555, essv5959273, essv6247762, essv5576906, essv6053786, essv6186884, essv5670267, essv5447880, essv5495751, essv6499522, essv5855713, essv6543442, essv5705798, essv6055016, essv5800223, essv5789850, essv5560146, essv5593386, essv6313337, essv5473889, essv5858090, essv5594851, essv6272143, essv6306986, essv6549000, essv5913911, essv5957008, essv5635476, essv5453367, essv6146137, essv6111889, essv5727681, essv5872852, essv6112992, essv6396504, essv6399126, essv6313628, essv6007611, essv6596277
SamplesHG00323, HG00613, NA12827, NA18870, HG00313, NA12043, HG00318, NA07347, NA12750, NA19712, NA18520, NA11930, NA20503, NA18530, HG01075, HG00328, HG01055, HG00437, HG01173, HG00186, NA12347, NA18501, NA20544, NA19401, NA19223, HG01098, NA19319, NA20296, HG00463, HG01051, HG01082, HG01174, HG00326, HG00106, NA12058, NA19834, HG00334, HG01204, HG00187, HG00404, NA20314, HG00557, NA20798, HG00319, HG00737, HG00253, NA12044, NA19761, HG01171, HG00479, NA18596, HG00321, NA19463, NA19914, NA18912, NA12843, HG00346, NA18508, NA12282, HG00583, NA18622, NA18960, NA19197, NA07357, NA18623, HG01048, HG00372, NA18592, HG00141, HG00315, HG00338, NA11933, HG00258, NA11831, NA20336, HG00254, HG00284, NA12830, NA19457, HG00114, NA12751, NA19190, HG00436, NA19395, NA07346, NA12046, NA19785, HG00108, NA19129, NA19703, HG00268, NA19373, NA20795, NA19102, NA06986, HG00672, HG00232, NA18504, HG00249, HG00277, HG01351, HG00740, HG01494, NA20542, NA18562, NA18910, NA18619, NA10851, NA20525, HG01137, HG00590, NA18552, NA19376, NA19729, HG01334, NA20332, NA18565, NA19009, NA20518, NA19818, HG00654, NA20513, NA18548, NA12003, NA18917, NA12842, HG00422, NA19371, HG00708, HG01108, NA18610, HG01125, NA19130, HG00324, NA20528, NA18549, NA18853, HG01462, NA20524, HG00336, NA20517, HG00272, HG00704, NA07000, HG01067
Known GenesMAST3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658066
Frequency
Sample Size1151
Observed Gain0
Observed Loss145
Observed Complex0
Frequencyn/a


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