A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657419



Internal ID9576838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143238970..143240294hg38UCSC Ensembl
chr5:142618535..142619859hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381325
hg191325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5765985, essv6272526, essv5722133, essv6087112, essv5594963, essv6185491, essv5707031, essv5986994, essv6318189, essv6150701, essv6096037, essv6029635, essv6134101, essv5498854, essv5449799, essv6297815, essv6427363, essv6483591, essv5913997, essv5487711, essv6551548, essv5759076, essv5561716, essv6410990, essv5677050, essv5625158, essv6279812, essv6185594, essv5404184, essv6449374, essv6418261, essv6375589, essv6313377, essv5615480, essv5908153, essv5517542, essv5695910, essv5827633, essv6138546, essv6350749, essv5476771, essv5638405, essv6436597, essv6464666, essv5428493, essv6476838, essv5934931, essv6586351, essv6374160, essv5472037, essv6570013, essv6270218, essv6179549, essv6463717, essv5730811, essv5548654, essv6372773, essv6055243, essv5594487, essv5889140, essv6322776, essv6371678, essv6151669, essv6246332, essv5928717, essv6250974, essv5578901, essv6169939, essv5697078, essv5939357, essv6145065, essv5796930, essv6411386, essv5613329, essv6359415, essv6282492, essv5414653, essv5417685, essv6543878, essv6505503, essv6503445, essv6377355, essv5439807, essv5474726, essv6418710, essv6145813, essv5742386, essv5953512, essv5516453, essv5748846, essv5997757, essv5501981, essv6533257, essv6080300, essv5834301, essv6300234, essv5811640, essv5864020, essv5486034, essv6043759, essv5853727, essv6287943, essv5808017, essv5596215, essv6285530, essv6052770, essv5791666, essv5681325, essv6092154, essv5502409, essv5812141, essv5399617, essv6134725, essv6570048, essv5781951, essv6549699, essv6338660, essv5776133, essv5489330, essv6474017
SamplesHG00189, NA12842, HG00143, HG00231, HG00142, HG00249, HG00361, HG00187, HG00100, HG00257, HG00315, HG00306, HG00151, NA20752, HG00367, HG00318, HG00244, HG00181, HG00150, HG00261, NA12341, HG00337, HG00327, HG00271, HG00138, HG00127, HG00122, HG00346, HG00247, HG00369, HG00270, HG00334, HG00243, HG00158, HG00281, HG00139, HG00277, HG00120, HG00335, HG00148, HG00236, HG00262, HG00232, HG00309, HG00182, HG00160, HG00118, HG00159, HG00326, HG00178, HG00323, HG00253, HG00260, HG00313, HG00137, HG00133, HG00188, HG00154, HG00149, HG00268, HG00183, HG00282, HG00328, HG00320, HG00344, HG00263, HG00275, NA20506, NA20519, HG00324, HG00284, HG00273, HG00373, HG00331, NA20538, NA06989, HG00117, HG00321, HG00157, HG00140, HG01334, HG00276, HG00146, HG00246, HG00126, HG00258, HG00155, HG00254, HG00119, HG00336, HG00285, HG00265, HG00366, HG00353, HG00375, HG00136, HG00278, HG00237, NA20504, HG00116, HG00256, HG00339, HG00269, HG00125, HG00111, HG00259, HG00329, HG00342, HG00174, HG00123, HG00186, HG00112, HG00280, NA19726, HG00343, NA19900, HG00372, HG00274, HG00252, HG00345
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657419
Frequency
Sample Size1151
Observed Gain0
Observed Loss120
Observed Complex0
Frequencyn/a


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