A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658425



Internal ID9924530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4036318..4036502hg38UCSC Ensembl
Outerchr19:4036267..4036564hg38UCSC Ensembl
Innerchr19:4036316..4036500hg19UCSC Ensembl
Outerchr19:4036265..4036562hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6468803, essv5989562, essv6437010, essv5854587, essv5985950, essv6004409, essv6420871, essv6346788, essv6461983, essv5748100, essv5712743, essv5515337, essv6357368, essv6296138, essv6296863, essv6011042, essv6573822, essv6515550, essv6350581, essv6538036, essv6387926, essv5697599, essv5418889, essv5487150, essv6077278, essv5752265, essv6218359, essv6571246, essv6060237, essv6185464, essv6562260, essv5706933, essv6393924, essv5422984, essv6560319, essv6476441, essv5876921, essv6216497, essv5413069, essv6183872, essv6328909, essv6306966, essv6567720, essv6553111, essv5584986, essv6088122, essv5615037, essv5596136, essv5517473, essv5773105, essv5995238, essv5874376, essv5744035, essv5592812, essv6392661, essv5732389, essv5411353, essv6378914, essv6197925, essv5582061, essv5651629, essv6596433, essv6158211, essv5964737, essv6054956, essv5782747, essv6422031, essv5598276, essv5955944, essv6417219, essv6509815, essv6158425, essv6484165, essv6059397, essv5893472, essv5714689, essv6400363, essv6485944, essv6246135, essv6316119, essv6522709, essv6110169, essv6402318, essv6382944, essv6152801, essv5974900, essv5879046, essv5492740, essv6532137, essv5465880, essv6171070, essv6323850, essv5655105, essv6547611, essv5421514, essv6386031, essv5574164, essv5814250, essv5744702, essv5428747, essv6066710, essv5681990, essv6236195, essv6152106, essv5397474, essv6551523, essv5895764, essv5830400, essv5786570, essv5697329, essv5590585, essv6361117, essv5857493, essv6437202, essv5431269, essv5812962, essv6397539, essv5761636, essv6532038, essv5510326, essv6226875, essv6013321, essv5981450, essv5700253, essv6056409, essv6025502, essv6030195, essv5922988, essv5427135, essv6059698, essv5633830, essv6584868, essv6500206, essv6427313, essv5820200, essv6553803, essv5429993, essv6313332, essv6029596, essv6244520, essv6040518, essv6155932, essv5917607, essv5627341, essv6068518, essv5566518, essv5964064, essv5534556, essv5642234, essv6574172, essv5978553, essv6470420, essv6295276, essv6116182, essv6297702, essv6272896, essv6141036, essv6231859, essv6425250, essv5844330, essv5586741, essv5700260, essv6083186, essv5502643, essv5480844, essv6051803, essv5954515, essv5408176, essv5649287, essv6414909, essv5805085, essv5998837, essv6524007, essv6134839, essv6303611, essv6449433, essv5549782, essv6481658, essv5617629, essv6300101
SamplesHG00096, HG00189, HG00114, NA20761, HG01441, HG01521, HG01356, NA19397, HG01462, HG00142, NA19664, HG00361, HG00242, NA12273, HG01079, HG00100, HG00151, NA20816, HG00233, NA18917, NA19359, HG00153, HG00103, NA20294, NA19057, HG01456, NA19684, NA18625, HG00737, HG00179, HG01518, NA19067, HG01140, HG00327, NA19396, HG00127, NA19076, NA18550, HG00272, NA19319, NA20798, NA20586, NA18619, NA07048, NA20768, NA19457, NA19313, HG00247, HG00369, HG00270, NA19782, NA19384, HG00311, HG00243, NA12761, HG01134, NA20759, NA12275, NA19651, HG01080, NA20518, HG00106, NA18977, HG01495, NA19372, HG00534, NA19235, NA19075, NA18617, NA19087, NA19002, HG01198, HG00637, HG01133, HG00178, NA20757, NA20533, HG01550, NA19789, HG00739, HG01124, NA11831, HG00133, HG01136, HG00188, HG00731, HG01360, NA19082, HG00380, HG00328, HG00245, NA19077, NA12003, NA18933, HG00577, HG01515, HG00368, NA20314, NA19081, NA19788, NA20506, NA12718, NA20126, NA19658, HG00239, NA19776, HG00708, HG01094, NA19449, NA19084, HG00373, NA12829, HG01383, NA19750, HG01101, NA18553, HG01497, NA19059, NA18963, NA19756, HG00141, NA19469, HG00126, NA20296, HG01148, NA19375, NA19652, NA20801, NA18533, HG00265, NA19747, HG00565, HG00366, NA18628, NA19072, HG00357, NA19773, NA19010, HG01357, NA20790, HG00308, HG01494, NA19470, NA19467, NA20516, NA20803, NA20281, NA19085, NA18615, NA12347, NA06986, HG00269, NA19759, NA19078, HG00614, HG01491, NA19438, NA20582, NA19472, NA19779, NA18987, HG01254, HG00174, NA20786, NA19770, NA20758, NA19780, HG00377, NA20503, NA20502, HG00147, NA11892, NA19758, HG01125, NA20585, HG01097, NA19429, NA19074, NA19431, HG01516
Known GenesPIAS4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658425
Frequency
Sample Size1151
Observed Gain0
Observed Loss180
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer