A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660093



Internal ID9926198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219508694..219512400hg38UCSC Ensembl
Outerchr2:219508323..219513070hg38UCSC Ensembl
Innerchr2:220373416..220377122hg19UCSC Ensembl
Outerchr2:220373045..220377792hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg384748
hg194748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6041538, essv6224267, essv6305004, essv5826569, essv5546825, essv6585596, essv6151233, essv5796937, essv6019172, essv6248576, essv6105312, essv5671529, essv5957020, essv6267146, essv6174308, essv6006339, essv6507033, essv6035853, essv5567351, essv5929018, essv5772433, essv5514751, essv6094297, essv5989713, essv6325356, essv5421433, essv5999221, essv5611957, essv5565459, essv6009897, essv5691678, essv5518518, essv5543091, essv6563575, essv5531758, essv6492588, essv6348782, essv5666065, essv6013709, essv6391459, essv5543017, essv5702156, essv6212014, essv6440926, essv6192672, essv5834322, essv5572057, essv5429098, essv5714900, essv5849221, essv5591303, essv5869780, essv6344648, essv6476554, essv6263007, essv6093189, essv6541228, essv5843082, essv5745087, essv5474845, essv6523913, essv5556363, essv5396065, essv6239168, essv5696457, essv5587799, essv5572679, essv5534267, essv6012563, essv6548394, essv5765752, essv5775406, essv6082674, essv5618969, essv6578930, essv6073366, essv6557859, essv5918193, essv6434063, essv6097157, essv5692128, essv5773375, essv6070019, essv5852917, essv6030717, essv5806831, essv5494457, essv5501895, essv5455638, essv6545907, essv5996255, essv5604685, essv6566012, essv5954085, essv5720471, essv5510423, essv6273838, essv6080107, essv5627197, essv6125698, essv6060577, essv6513080, essv6504087, essv6595882, essv5770274, essv5888617, essv5689979, essv6570209, essv5946121, essv6132443, essv5685906, essv5474368, essv6345294, essv6411262, essv5617317, essv5547428, essv6392258, essv5494907, essv6302286, essv5530464, essv6498520, essv6039727, essv6002423, essv5539487, essv5874224, essv5418169, essv5680425, essv5837348
SamplesNA19394, HG00650, HG00542, HG00442, HG00592, HG00536, NA19397, HG00608, NA19466, HG00671, HG00524, NA19332, HG00699, NA19393, NA19377, HG00449, NA19443, HG00693, HG00663, NA19446, NA19396, NA19373, NA19379, HG00589, HG00501, NA19382, NA19448, HG00689, HG00448, HG00634, NA19457, NA19313, HG00537, HG00590, NA19404, HG00512, NA19383, HG00683, NA19372, NA19371, HG00534, NA19385, HG00422, NA19471, HG00705, HG00427, NA19456, NA19445, HG00530, HG00419, NA19451, HG00464, HG00543, HG00629, NA19437, HG00443, HG00596, NA19403, HG00557, HG00428, NA19462, NA19347, HG00653, HG00701, HG00657, NA19391, HG00475, NA19455, HG00436, HG00556, HG00533, HG00583, HG00619, HG00708, NA19461, HG00651, HG00690, HG00404, HG00531, HG00479, HG00613, HG00525, NA19338, NA19452, HG00704, NA19469, NA19436, NA19401, HG00476, NA19440, NA19321, NA19434, HG00565, NA19473, NA19435, NA19334, HG00473, HG00607, NA19470, NA19311, NA19360, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, NA19438, HG00421, HG00656, NA19468, NA19474, HG00698, HG00595, HG00472, NA19430, NA19316, NA19312, HG00628, NA19463, NA19429, NA19346, HG00437, HG00581, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660093
Frequency
Sample Size1151
Observed Gain0
Observed Loss128
Observed Complex0
Frequencyn/a


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