A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666569



Internal ID9585988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124339599..124339731hg38UCSC Ensembl
chr12:124824145..124824277hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5845703, essv5617888, essv5831790, essv6201450, essv6244227, essv6415815, essv5802585, essv5737402, essv6085280, essv5443251, essv5507232, essv6328525, essv5496728, essv5535972, essv6038555, essv6176110, essv6357670, essv6536071, essv6205188, essv6486121, essv5991265, essv5725614, essv5782026, essv5980420, essv6171577, essv6353757, essv5502922, essv5873877, essv6035408, essv5539486, essv5839062, essv5559908, essv5618176, essv5523343, essv5856935, essv5531968, essv5433269, essv6077975, essv6272940, essv5683532, essv6250120, essv5630264, essv6267052, essv5626693, essv6009852, essv6032525, essv5911831, essv6384054, essv5677057, essv6165561, essv6216505, essv6391667, essv5786424, essv6576559, essv6535249, essv6192025, essv5720802, essv5439028, essv6265402, essv6087093, essv6521442, essv6282314, essv6442716, essv6224457, essv6289276, essv6333261, essv5511790, essv5880956, essv6391421, essv6044244, essv5606859, essv5678475, essv5482359, essv6337391, essv5806648, essv5721372, essv6021437, essv6212753, essv5528543, essv5408761, essv6008837, essv6559506, essv6379543, essv5963460, essv6216102, essv6038282, essv6059188, essv5933074, essv5452437, essv5889695, essv6378952, essv5582820, essv6444343, essv6179730, essv6534003, essv5892383, essv6557248, essv5676078, essv6155568, essv6406245, essv5886231, essv5753869, essv5422104, essv5611629, essv5442507, essv5880708, essv5795378, essv5503883, essv5499634, essv5631987, essv5771534, essv6497427, essv5876937, essv5471694, essv5831904, essv6537322, essv6326897, essv5993768, essv5829178
SamplesHG00613, NA12827, NA19625, NA12249, NA18861, HG00252, NA12748, NA11930, NA07037, NA20809, HG00619, HG00418, HG01072, NA19404, HG00328, NA18952, HG00437, HG01173, NA20796, HG00449, NA18570, NA18545, NA18603, NA18948, HG00657, NA18516, NA19317, NA20800, HG01082, NA20816, NA12828, HG00375, NA20342, NA20778, HG01350, HG00701, HG00698, HG00111, HG00280, HG00253, NA12044, NA18632, HG00154, HG01107, HG00339, NA19428, NA19383, HG00346, HG01384, NA12282, NA20515, HG00421, NA12004, NA18566, HG00337, NA11994, NA18536, NA18576, HG00372, NA20801, HG00315, NA12761, NA11933, NA18609, NA20765, HG00125, NA11831, NA12829, NA18637, HG00254, HG00276, HG01187, NA12830, HG00237, NA19324, NA20773, NA12006, HG00373, HG00108, NA18572, NA20760, NA12778, NA19373, HG00629, HG00185, HG00239, HG00672, HG01069, NA20818, NA18613, NA20542, NA18606, NA18543, NA18582, NA18597, NA20537, HG00650, HG00663, NA19099, NA20507, NA12003, HG00281, NA12842, HG01366, HG01108, HG01251, HG00693, NA11932, HG00320, HG00137, NA20804, NA20806, HG01377, NA19758, HG00345, NA18555, HG00278, HG00136, NA12775
Known GenesNCOR2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666569
Frequency
Sample Size1151
Observed Gain0
Observed Loss119
Observed Complex0
Frequencyn/a


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