A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672513



Internal ID9591932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130609382..130609679hg38UCSC Ensembl
chr12:131093927..131094224hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6428442, essv5473698, essv6317273, essv5911606, essv5933708, essv5822822, essv5510582, essv6404532, essv5899550, essv5744745, essv6335626, essv5466345, essv5984922, essv6214536, essv5988182, essv6234554, essv5827908, essv5991739, essv6593236, essv6562024, essv6000701, essv6251362, essv5968952, essv6482289, essv6084561, essv5521345, essv5726615, essv6074287, essv5548183, essv6454246, essv6459318, essv6245141, essv6094509, essv6490228, essv5859717, essv6381081, essv6534386, essv5437242, essv5550418, essv6383986, essv6099291, essv6145750, essv5716498, essv5801615, essv5773276, essv6578058, essv5425267, essv5689233, essv6293005, essv6035982, essv6522489, essv6338773, essv6100882, essv6578401, essv5484908, essv5781878, essv5862905, essv5741548, essv5556646, essv5592137, essv5452944, essv5431335, essv5590736, essv5509059, essv6546196, essv5680932, essv5506902, essv5835859, essv6443707, essv6397815, essv6082009, essv5827259, essv5443160, essv5662192, essv5938515, essv6498938, essv5773237, essv5561026, essv5640697, essv5815797, essv5907614
SamplesNA19394, HG00189, NA19648, HG01173, HG00242, NA18508, HG00187, NA18980, NA11920, NA20531, NA18486, NA19684, NA18959, HG00179, NA19098, NA20356, NA12155, NA07357, NA12813, HG00138, NA19201, NA11992, NA12283, HG00247, HG01365, NA12761, NA11930, HG00139, NA19651, NA20278, NA19383, NA19371, NA19238, NA12044, NA19172, HG00323, NA19985, HG00253, HG01124, HG00137, NA19210, HG00380, HG00145, NA19391, NA19663, NA18516, NA20126, NA18907, NA20525, HG00284, NA12829, NA18856, NA12892, HG00117, NA18853, NA20282, NA20828, NA19625, NA19401, NA20773, NA18961, NA18564, NA19144, HG01174, HG00308, NA19835, HG00116, NA06986, HG00269, NA19248, HG00312, NA19438, NA19472, NA19779, NA19713, NA19102, NA19116, NA20826, NA20528, NA18552, NA19900
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672513
Frequency
Sample Size1151
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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