A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677768



Internal ID9943873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41930007..41933376hg38UCSC Ensembl
chr21:43350116..43353485hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383370
hg193370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6348916, essv6155091, essv6114084, essv5618857, essv6178971, essv5624479, essv6035398, essv6127815, essv6276203, essv6214223, essv6164426, essv5510211, essv6196131, essv5932505, essv5996611, essv6280990, essv5919521, essv5975265, essv6310002, essv5939940, essv5445122, essv5830508, essv5985456, essv5688241, essv5566390, essv6299198, essv6049452, essv5639437, essv5984358, essv6358569, essv5883425, essv6562383, essv6004255, essv6429131, essv6244431, essv6345605, essv5486824, essv5748185, essv6309310, essv6076414, essv6560149, essv6173058, essv6273331, essv5577888, essv6317730, essv6415530, essv5459696, essv5486396, essv5788366, essv6524294, essv5478293, essv6123208, essv5689938, essv5783449, essv5922092, essv6164044, essv6044920, essv5552786, essv5429744, essv6542433, essv6046816, essv6365150, essv5784624, essv5775890, essv6573669, essv5788014, essv6479001, essv5671463, essv5517850, essv5933956, essv5717280, essv5874606, essv6198801, essv5964296, essv6394737, essv6198873, essv5617178, essv6303660, essv6180730, essv6481561, essv5475594, essv5870434, essv6234054, essv5936367, essv6467903, essv6501186, essv5821632, essv5524927, essv6087657, essv6331002, essv6273689, essv6423362
SamplesHG01441, NA18621, HG00249, NA11995, HG00361, HG00242, NA12273, HG01066, HG00306, NA20816, NA20802, HG00640, HG00244, NA20805, NA19777, NA20808, HG01461, NA20771, NA07357, NA12413, NA12341, HG00337, NA18967, HG00272, NA20798, NA20586, NA18567, NA12891, HG01492, NA18960, NA12283, HG00243, NA20759, HG01455, HG01069, NA20518, HG01170, HG01495, NA18986, HG00309, NA20811, HG00118, NA18990, HG01198, HG01048, NA12828, NA20757, NA18539, NA19007, HG00133, NA12777, HG00188, HG00560, HG00266, NA19082, HG01171, NA19056, NA20787, NA19077, NA12878, HG00190, NA20536, NA12718, NA18572, HG01390, HG01094, HG00479, HG00117, HG00613, NA20542, NA19012, NA18546, NA12272, HG00136, HG00638, HG01357, NA19083, NA19085, HG01342, NA12347, HG00269, NA19785, NA20582, NA12749, NA19713, HG01055, NA20807, NA12890, NA07000, NA20585, NA12154, HG00554
Known GenesC2CD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677768
Frequency
Sample Size1151
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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