A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668600



Internal ID9934705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:133798825..133801131hg38UCSC Ensembl
Outerchr5:133798154..133801751hg38UCSC Ensembl
Innerchr5:133134516..133136822hg19UCSC Ensembl
Outerchr5:133133845..133137442hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383598
hg193598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1040e199
Supporting Variantsessv6163217, essv5862818, essv6522956, essv6014515, essv6145355, essv5655026, essv6308504, essv5817508, essv6084263, essv6311839, essv5825033, essv6284275, essv6172407, essv5740363, essv6571866, essv6375308, essv5567694, essv6187989, essv6189707, essv5850745, essv6138685, essv5450443, essv5865296, essv5623208, essv5420919, essv5843830, essv5494741, essv5920312, essv5507105, essv6028836, essv5595487, essv6473303, essv6315691, essv5640548, essv5640180, essv5493312, essv6211280, essv6185371, essv5424951, essv6225730, essv5912446, essv5421611, essv5842120, essv6366575, essv5956872, essv6345867, essv5669922, essv5919316, essv6170476, essv6289237, essv5450430, essv6413856, essv6164900, essv5978626, essv5920062, essv6557223, essv5536424, essv6317350, essv5898646, essv6566171, essv5490031, essv5796240, essv6204993, essv6090745, essv5554987, essv5540974, essv6380638, essv6588418, essv5605359, essv5793784, essv5734350, essv5424975, essv5699992, essv6550840, essv5899227, essv6134221, essv6263994, essv6084010, essv5751146, essv6055464, essv6426278, essv6030446, essv6371991, essv6032403, essv5571091, essv6564623, essv5541398, essv6490364, essv5729130, essv6448053, essv6044185, essv5535595, essv6369137, essv6298814, essv5963728, essv5898255, essv6306576, essv5573298, essv6588605, essv6368148, essv5877683, essv5962782, essv5902945, essv5982550, essv5912084, essv6281646, essv5637256, essv6577777, essv5951560, essv5641047, essv6499927, essv5431433, essv6481160, essv5807385, essv6296337, essv5980577, essv6166528, essv6355187, essv5752682, essv6133195, essv5711635, essv5692542, essv5419352, essv5972872, essv5661769, essv6316642, essv6500191, essv5559794, essv6355773, essv5760399, essv5812515, essv6380853, essv6012556, essv5626942, essv6046102, essv6431702, essv5789402, essv5750986, essv5601731
SamplesHG00403, NA19701, HG00442, HG01173, HG01356, NA19703, HG00231, HG01462, NA19909, HG00242, HG01359, NA19914, HG01052, HG01079, HG00100, HG01188, HG00257, HG01389, HG01374, HG00151, HG00103, NA19819, NA20332, HG00179, NA20346, HG01461, HG00654, NA19920, HG01140, HG00337, HG00327, HG00663, HG00641, HG01366, HG01070, HG00251, HG00122, HG01351, NA19916, HG00330, HG01492, HG00610, NA20287, HG00185, NA20336, NA20291, HG00158, HG00139, NA20278, HG00236, HG00156, HG01495, HG00325, NA19917, HG01072, HG00232, NA20340, HG01176, HG00705, NA19901, HG00118, HG01198, HG00338, NA20342, HG00326, HG00419, HG00260, HG01353, HG00133, HG01183, HG01136, HG00731, HG00282, HG00328, HG00245, HG00428, HG00732, HG00475, HG00368, NA19982, HG00556, HG00344, HG01149, HG00635, HG01047, HG00273, NA20299, HG00404, HG00531, HG01383, HG01182, HG00117, HG01101, HG00157, HG00140, HG01334, HG00276, HG00126, HG01107, HG01148, HG00254, HG00119, HG01190, HG00285, NA19834, NA19712, HG00353, HG00734, HG00136, HG00638, HG01357, HG01174, HG01375, HG00319, HG00116, NA20281, HG01489, HG00125, HG00707, HG01491, HG00259, NA20334, HG01254, HG00174, HG00310, HG00186, HG00112, HG00698, HG00131, HG00372, HG00252, HG01378, HG01125, NA20322, HG01112, HG00554, HG01191, HG01437, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668600
Frequency
Sample Size1151
Observed Gain0
Observed Loss139
Observed Complex0
Frequencyn/a


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