A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678748



Internal ID9598167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:29629592..29630062hg38UCSC Ensembl
chr10:29918521..29918991hg19UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6331721, essv6107764, essv5411060, essv5725474, essv5570147, essv5468701, essv5625808, essv6208017, essv6185343, essv5633240, essv6099424, essv5806068, essv5576110, essv5615299, essv6087351, essv5659059, essv6313852, essv5567025, essv5912309, essv5831556, essv6520072, essv6426799, essv5760139, essv6530512, essv6406043, essv5730023, essv5490232, essv5849133, essv6344279, essv6372814, essv6386124, essv5713094, essv5966169, essv6092724, essv6014010, essv6491217, essv5997320, essv6012290, essv6054721, essv6331010, essv5514959, essv6211913, essv6487244, essv5674133, essv6028014, essv6337239, essv6223952, essv6073508, essv5921066, essv5600653, essv6161519, essv5652753, essv5819998, essv6055190, essv5744192, essv5854646, essv6307328, essv5846418, essv5532924, essv5615985, essv6104992, essv6172002, essv6211010, essv6097045, essv6365769, essv6319994, essv5464498, essv6225985, essv5534034, essv5546892, essv5947622, essv6046320, essv6379632, essv6359390, essv6491149, essv6344934, essv5805449, essv5942468, essv6024365, essv5549581, essv5851448, essv5572666, essv6012593, essv6094642, essv6259287, essv5576658, essv6382962, essv6510250, essv5833490, essv6527972, essv5859484, essv5768819, essv5540396, essv6226215, essv6247267, essv5899655, essv6420812, essv5533040, essv5497001, essv5877414, essv5968625, essv5760307, essv6489125, essv6039795, essv5790205, essv5811613, essv6534602, essv6124092, essv6580635, essv5789057, essv5545302, essv6428341, essv5777511, essv6084946, essv5765555, essv5579947, essv5655814, essv6318388, essv6016772, essv5989612, essv6391281, essv5844481, essv6019628, essv6314897, essv6185172, essv5902269, essv6066578, essv5790801, essv5541704, essv6531913, essv5437772, essv6295871, essv6374487, essv6477069, essv5690105, essv5498313
SamplesHG00380, NA11881, NA12718, NA19625, HG00734, NA12249, NA12750, NA19712, NA11930, HG00182, NA20809, NA20503, HG00344, HG01353, HG01072, NA20506, NA20752, HG01173, HG00171, NA19783, HG00155, HG00736, NA20531, HG00160, NA19469, HG01389, NA19317, HG00189, NA19331, HG01082, HG01174, HG00553, HG00139, HG00739, HG00122, NA19379, NA20588, HG01204, HG00335, NA20798, NA20803, NA19776, NA19654, HG00269, HG01521, HG00256, NA20770, HG01148, HG01384, NA12282, NA20515, NA12004, NA12155, HG00180, NA19443, HG00096, NA07357, HG01048, HG01061, HG00231, NA19397, NA07048, NA19429, HG00338, HG00150, NA19774, HG00125, HG01360, NA11831, HG01253, HG00243, NA19663, HG00343, NA19728, HG00114, NA12751, NA19676, NA19360, NA19786, HG01097, NA12716, NA19189, NA12892, NA19375, NA20512, NA19716, NA20795, HG01455, NA19657, NA19731, HG01073, HG00282, HG01069, HG01356, HG00277, HG01080, HG01351, NA20542, HG01070, HG01383, HG00377, NA20813, NA19789, NA20581, NA19921, NA20537, NA20534, NA20756, NA20799, NA06984, NA12413, NA20518, HG00138, NA12156, NA19116, NA19818, NA20509, NA18548, HG00281, NA20812, HG01108, NA19470, HG00367, NA11932, NA11829, NA12717, NA20528, NA19350, NA19448, NA19468, NA19385, HG00278, HG00136, NA12775, HG01067, HG01354
Known GenesSVIL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678748
Frequency
Sample Size1151
Observed Gain0
Observed Loss136
Observed Complex0
Frequencyn/a


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