A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665467



Internal ID9584886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87347091..87353146hg38UCSC Ensembl
chr4:88268243..88274298hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg386056
hg196056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6543345, essv5627565, essv6337568, essv5480574, essv5730308, essv5847708, essv6079081, essv5739757, essv5538187, essv6449036, essv6455331, essv6550415, essv5704737, essv5904290, essv5991995, essv6253517, essv5999361, essv6359091, essv6031931, essv6039419, essv5530120, essv5466082, essv6168545, essv6514265, essv6067862, essv5667056, essv5846508, essv5906468, essv5998281, essv5723009, essv6480703, essv6589366, essv6239068, essv5980401, essv6277755, essv6205467, essv5509853, essv5885599, essv5738746, essv6540312, essv6104227, essv6528506, essv5751935, essv6012672, essv5668335, essv5951723, essv5871313, essv5728077, essv6418297, essv5471850, essv5512656, essv5733617, essv6288703, essv6443378, essv5735176, essv5870660, essv6473933, essv6079270, essv5452792, essv5801074, essv5528199, essv5956921, essv6345217, essv5956407, essv5982562, essv6051950, essv5406623, essv6009474, essv5541705, essv5642696, essv6494117, essv5848154, essv6156817, essv6066854, essv5452028, essv6047432, essv6049160, essv6065952, essv5463443, essv5883679, essv5497108, essv5627808, essv6039446, essv5863238, essv5938247, essv6578654, essv5432736, essv5964132, essv6577555, essv6323185, essv6060697, essv6503819, essv6571899, essv5651139, essv6041873, essv5909960, essv5498900, essv5474701, essv5833045, essv5727307, essv5415856, essv6024230, essv5407008, essv5511731, essv5519996, essv5817583, essv5945803, essv6136839, essv5578632, essv6405760, essv6197157, essv6313118, essv6384311, essv5556386, essv6299328, essv6151344, essv5712362, essv5971406, essv6339648, essv5401707, essv5890178, essv5424284, essv5455615, essv5515994, essv6309946, essv5886859, essv5965621, essv5450660, essv6037562, essv5664183, essv6357506, essv6412824, essv6433155, essv5889303, essv6326870, essv6375393, essv5662315, essv5576957, essv6452005, essv5703563, essv6135269, essv6558019, essv6259280, essv5700907, essv5611990, essv6327366, essv6287762, essv5927866, essv6150086, essv6156366, essv5586968, essv6297489, essv6519762, essv6555519, essv6284073, essv6550477, essv5761579, essv6428494, essv6154322, essv5766020, essv5480853, essv5866643, essv6071267, essv5834334, essv5690498, essv5560356, essv6153411, essv6172194, essv5523743, essv6208642, essv6275730, essv6344088, essv5575597, essv5424624, essv5870771, essv6257281, essv6565351, essv6494974, essv5750327, essv6003451, essv6291050, essv6420703, essv6429998, essv6002958, essv5436567, essv6349694, essv6583800, essv5487100, essv5673141, essv6325489, essv5838096, essv5517307, essv5639518, essv6348387, essv6526505, essv5426952, essv5722428, essv5633541, essv6108514, essv6442169, essv6392164, essv5562168, essv5637059, essv6097822, essv6065111, essv5462267, essv6010935, essv6285162, essv6440293, essv5468755, essv6213816, essv5527130, essv6502072
SamplesHG00323, NA20281, HG00309, NA18870, NA19248, HG01515, HG00313, NA12489, HG00318, NA18520, NA19904, NA20278, NA19819, HG00551, NA12342, HG00328, NA19437, NA07056, NA18874, HG01173, HG00369, HG01083, HG00112, NA18501, NA19401, NA20796, NA19469, NA20346, NA18511, NA19223, NA19455, NA19435, HG01079, HG01389, NA19319, NA19334, HG00117, HG01082, NA19451, NA20816, HG00375, NA19338, NA19920, HG00553, HG01350, HG00139, NA18489, HG00106, NA12058, NA19834, HG00334, HG01204, NA19685, HG00187, NA19648, HG00280, HG01134, NA19682, NA18488, NA19474, NA20322, NA18873, NA19761, NA19776, HG00353, NA19438, NA20586, HG00247, HG01133, HG00256, HG00342, HG00266, HG00154, HG00158, HG01148, HG00242, NA19383, NA19982, NA12843, NA20533, HG00179, HG01140, NA19390, NA19660, NA12155, NA07357, NA19471, NA20757, HG01048, HG00231, HG01047, NA20754, NA18856, NA19397, NA07048, NA12761, NA19398, NA19429, HG00338, HG00125, HG00258, NA19835, NA20282, NA20336, HG00174, NA19658, HG00637, NA19681, NA19679, HG00284, HG01187, NA19457, HG00237, HG00343, NA12144, NA19316, NA20773, NA19190, NA19213, NA19676, NA19725, HG00267, HG01111, HG01437, HG01097, NA12716, NA19129, NA19172, NA19189, NA19372, HG01516, HG01191, NA19703, HG00268, HG01066, NA19375, NA19393, NA20348, HG00732, NA18923, NA18522, NA20753, NA12275, NA18510, HG00260, NA19657, NA19713, HG00265, NA19901, HG01170, HG00232, HG01069, NA18504, NA11892, NA18858, HG00277, NA19347, NA19332, NA19909, HG00153, HG01070, HG00246, NA19711, NA19462, HG00120, NA19921, HG01190, NA19376, NA12272, NA19391, NA19723, HG01334, NA20276, NA20332, NA06984, NA19403, HG00138, NA19116, NA19431, HG01112, HG00118, NA20509, HG01390, NA20317, HG00285, NA19063, NA19717, HG00656, NA18924, NA20543, NA19916, HG01108, NA19470, NA19315, NA19130, HG01177, HG00119, NA19350, HG01102, NA18908, NA19473, NA20806, HG01110, NA19448, NA19468, NA19385, NA20519, NA19456, NA19779, HG00136, NA12775, HG00312, HG01198
Known GenesHSD17B11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665467
Frequency
Sample Size1151
Observed Gain0
Observed Loss213
Observed Complex0
Frequencyn/a


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