A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678882



Internal ID9944987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170040686..170040945hg38UCSC Ensembl
chr5:169467690..169467949hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6153223, essv5914043, essv6348205, essv5890988, essv6270562, essv6210754, essv6418990, essv5512914, essv5916312, essv6004627, essv6495048, essv5556271, essv5717787, essv5403309, essv5803163, essv6046610, essv6542496, essv5687233, essv6404890, essv5806268, essv6488775, essv5450073, essv6263325, essv5478947, essv5960736, essv5981484, essv6130972, essv5440708, essv5682761, essv5636698, essv6232412, essv5499161, essv6044349, essv5461408, essv5975035, essv5418661, essv6193151, essv6139980, essv6409759, essv6291070, essv6282303, essv5692653, essv5833326, essv6167842, essv5653161, essv6051130, essv6234212, essv6172676, essv5872738, essv6463323, essv5973680, essv5602898, essv5457441, essv6423532, essv5676410, essv5617854, essv6359957, essv6212694, essv6320729, essv6473872, essv6405673, essv6212069, essv6580910, essv5622945, essv6339366, essv6100510, essv5937885, essv6429995, essv6585775, essv5589156, essv6459863, essv5967618, essv6428050, essv6281984, essv6549461, essv6434171, essv5733802, essv6081336, essv5452993, essv5953866, essv5856311, essv5759114, essv5685274, essv5524336, essv5507012, essv5487984, essv5908474, essv5400957, essv6015174, essv6298641, essv6347364, essv5576894, essv5820291, essv5495039, essv5815429, essv5826906, essv6246250, essv6450070, essv5651602, essv5575391, essv5447464, essv5996107, essv6208293, essv6006897, essv5794617, essv6342052, essv5866662, essv6396412, essv6048316, essv6010996, essv6357209, essv6185966, essv5632643, essv6297193, essv6516422, essv5970641, essv5807001, essv6307529, essv5616211, essv5751688, essv6061345, essv6315245, essv6062996, essv5990852, essv5400299, essv6010236, essv6326575, essv5859536, essv5686771, essv6398828, essv5982710, essv5439156, essv5997483, essv6537045, essv6531336, essv6010143, essv6505826, essv6201849
SamplesHG00096, NA19394, NA19703, NA19397, NA19909, NA19466, NA18861, NA18508, NA12273, NA19914, NA19332, NA19704, NA19350, NA19359, NA19092, NA20294, NA19819, NA18504, NA20332, NA19377, HG01461, NA19443, NA19190, NA18870, HG01051, NA19920, NA18510, NA19374, NA19396, NA19381, NA19171, NA19382, NA19315, NA20798, NA18923, NA19916, NA19197, NA19457, NA19313, NA19138, NA18498, HG01365, NA19904, NA19384, NA18964, NA20291, NA19130, NA19404, NA20759, NA20278, NA19383, NA18868, NA19917, HG01072, NA20340, NA19372, NA19385, NA19471, NA18520, NA19239, NA12828, NA19445, NA18867, NA19921, NA19451, HG00739, NA19908, NA19210, NA19437, NA20505, NA19347, NA20314, NA19236, NA18910, NA18871, NA20344, NA18907, HG01390, NA19461, NA19114, NA19449, NA18499, NA18856, HG01101, NA18853, NA19338, NA19257, NA19225, NA18523, NA19469, NA19395, NA20542, NA19625, NA18858, NA20296, NA19401, NA19375, HG00258, NA19652, NA19440, NA18909, NA19834, NA19321, NA19108, NA19256, NA19147, NA18517, NA19434, NA19435, NA19331, NA19380, NA19144, NA19334, NA19439, NA19470, NA19324, NA20281, NA19360, NA19818, NA19398, NA19248, NA20334, NA19468, NA19093, NA20289, NA19102, NA18873, HG00131, NA19116, NA19213, NA18505, NA18488, NA19312, NA19463, NA18511, NA18522, NA19346, NA18487
Known GenesDOCK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678882
Frequency
Sample Size1151
Observed Gain0
Observed Loss138
Observed Complex0
Frequencyn/a


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