A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1040e199



Internal ID22758813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133797654..133801751hg38UCSC Ensembl
chr5:133133345..133137442hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg384098
hg194098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2668600, esv2677169, esv2671962
SamplesHG00403, NA19701, HG00442, NA11830, HG01173, HG01356, NA19703, HG00231, NA19397, HG01462, NA19909, NA12286, NA11829, HG00242, NA10851, HG01359, NA12273, NA19914, HG01052, NA12414, HG01079, HG00100, HG01188, HG00257, HG01389, HG01374, HG00151, NA12045, NA12751, HG00103, NA19355, NA19819, NA12004, NA12340, NA20332, NA12058, HG00179, NA20346, HG01461, HG00654, NA19920, NA12750, NA12399, HG01140, NA12341, HG00337, HG00327, NA12813, HG00663, NA19446, NA07346, NA19374, HG00641, NA19381, HG01366, HG01070, HG00251, HG00122, HG01351, NA19448, NA19916, HG00330, HG01492, HG00610, NA11992, NA11918, NA07347, NA20287, HG00185, NA20336, NA20291, HG00158, HG00139, NA20278, NA12156, HG00236, HG00156, HG01495, HG00325, NA19917, HG01072, HG00232, NA20340, NA19385, NA19471, HG01176, HG00705, NA19901, HG00118, HG01198, HG00338, NA20342, NA12828, HG00326, HG00419, NA12748, HG00260, NA11831, HG01353, HG00133, HG01183, HG01136, HG00731, HG00282, HG00328, HG00245, NA12342, NA12003, HG00428, NA19347, HG00732, HG00475, HG00368, NA19982, HG00556, HG00344, HG01149, HG00635, HG01047, HG00273, NA11919, NA20299, HG00404, HG00531, NA11894, NA12249, HG01383, NA19453, HG01182, HG00117, HG01101, HG00157, HG00140, HG01334, NA19338, HG00276, NA19452, HG00126, HG01107, NA19436, NA12043, HG01148, NA19401, NA19440, HG00254, HG00119, NA11881, HG01190, HG00285, NA19834, NA19712, NA12775, HG00353, NA12272, HG00734, HG00136, HG00638, NA12046, HG01357, HG01174, HG01375, HG00319, HG00116, NA20281, NA07037, NA12763, HG01489, NA06986, HG00125, HG00707, NA06994, HG01491, HG00259, NA20334, HG01254, HG00174, HG00310, HG00186, HG00112, HG00698, HG00131, HG00372, HG00252, NA19430, HG01378, HG01125, NA20322, NA12006, HG01112, HG00554, HG01191, HG01437, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1040e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss193
Observed Complex0
Frequencyn/a


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