A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669782



Internal ID9935887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178680315..178687771hg38UCSC Ensembl
Outerchr5:178679644..178688391hg38UCSC Ensembl
Innerchr5:178107316..178114772hg19UCSC Ensembl
Outerchr5:178106645..178115392hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388748
hg198748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1062e199
Supporting Variantsessv6035401, essv5687594, essv6420518, essv6555665, essv5940604, essv6510607, essv6085667, essv5475318, essv6511696, essv6254978, essv6503449, essv6241299, essv5413451, essv5692743, essv5789290, essv6400536, essv6245222, essv5810338, essv6092653, essv6402386, essv6583660, essv5814040, essv6047645, essv5526432, essv5828490, essv5840315, essv5710758, essv6005138, essv5642454, essv5787344, essv6075227, essv6102668, essv5652204, essv5890747, essv5574159, essv5798105, essv5535869, essv5671430, essv6409762, essv5671164, essv5771453, essv6342790, essv5939315, essv5688929, essv6139402, essv5964903, essv6441689, essv5562774, essv5539849, essv6040361, essv5484067, essv6507015, essv6113441, essv5936750, essv5737326, essv5566251, essv5713183, essv5823097, essv5684806, essv6472831, essv5606281, essv6122677, essv5439947, essv5525690, essv5614373, essv5572593, essv6159940, essv6524789, essv5717511, essv5453988, essv6202192, essv5723565, essv6096322, essv6422711, essv5539999, essv5785236, essv6279728, essv5576740, essv5465200, essv6479259, essv5868223, essv5678842, essv6159591, essv5783696, essv5838873, essv5838198, essv6173301, essv6441085, essv5641551, essv6005438, essv5972852, essv5897256, essv6125068, essv5504661, essv5797091, essv5599945, essv5961119, essv5401676, essv5877675, essv5408249, essv5538045, essv6339967, essv6521749, essv5426999, essv6287807, essv5593264, essv5752602, essv6382562, essv6169735, essv6372599, essv5554815, essv5450437, essv5523084, essv6339441, essv5685118, essv6177577, essv5476895, essv6583671, essv5955712, essv5751962, essv6272616, essv6539792, essv6016757, essv5941662, essv6149227, essv5416137, essv6312095, essv5618340, essv5695791, essv5420850, essv5506409, essv5613686, essv6538798, essv5482717, essv5703271, essv6241812, essv6460229, essv6240286, essv6576853, essv5911588
SamplesHG00593, HG00626, HG00403, HG00542, NA12717, HG00442, HG00536, HG00608, NA11995, HG00361, HG00242, NA10851, HG00559, HG00187, HG00100, NA11931, HG00151, HG00318, HG00181, HG00699, NA12004, HG00566, HG00449, HG00177, HG00150, HG00654, NA12400, HG00261, NA12155, NA12413, NA12341, HG00337, HG00271, HG00663, HG00448, HG00173, NA12348, HG00610, NA11992, NA07048, HG00346, HG00270, HG00185, HG00158, HG00281, HG00277, HG00106, NA12156, NA06984, HG00156, NA11994, HG00534, HG00422, HG00705, NA12889, HG00427, HG00338, HG00178, HG00323, HG00530, HG00419, HG00253, HG00264, NA11993, NA10847, HG00543, HG00188, HG00154, NA12489, HG00629, HG00443, HG00266, HG00176, HG00282, HG00557, HG00328, NA12003, HG00577, HG00475, HG00584, HG00583, HG00344, HG00500, HG00263, HG00619, HG00692, HG00324, HG00273, HG00404, HG00479, HG00331, HG00684, NA06989, HG00613, HG00525, HG00321, HG00157, HG00140, NA12144, HG00463, HG00126, HG00611, HG00155, HG00285, HG00565, HG00580, HG00375, HG00136, HG00278, NA07051, HG00607, NA12763, HG00662, NA06986, HG00620, HG00269, HG00125, HG00707, HG00672, HG00614, HG00111, HG00312, HG00421, HG00656, HG00342, HG00267, HG00123, HG00186, HG00698, HG00372, HG00274, HG00252, HG00595, NA07056, NA11892, HG00171, NA12006, HG00180, HG00437, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669782
Frequency
Sample Size1151
Observed Gain0
Observed Loss140
Observed Complex0
Frequencyn/a


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