A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628445



Internal ID6668588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7847526..8064130hg38UCSC Ensembl
chr12:8000122..8216726hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38216605
hg19216605
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14349802, essv14349764, essv14349808, essv14349784, essv14349813, essv14349820, essv14349815, essv14349786, essv14349774, essv14349812, essv14349793, essv14349814, essv14349767, essv14349777, essv14349800, essv14349816, essv14349763, essv14349796, essv14349789, essv14349803, essv14349760, essv14349818, essv14349822, essv14349771, essv14349806, essv14349809, essv14349797, essv14349782, essv14349825, essv14349798, essv14349785, essv14349759, essv14349817, essv14349772, essv14349761, essv14349810, essv14349779, essv14349762, essv14349776, essv14349805, essv14349787, essv14349770, essv14349794, essv14349823, essv14349795, essv14349804, essv14349811, essv14349783, essv14349775, essv14349781, essv14349769, essv14349778, essv14349819, essv14349792, essv14349799, essv14349788, essv14349766, essv14349768, essv14349765, essv14349824, essv14349773, essv14349791, essv14349807, essv14349801, essv14349821, essv14349790, essv14349780
SamplesNA18998, HG01485, NA19055, NA18924, NA18621, HG02385, HG00244, NA19092, NA18878, HG01051, HG01140, NA18627, HG00641, HG03385, HG02810, HG03757, NA20756, HG01710, HG03079, NA20759, HG03910, HG02395, HG01284, HG01405, HG01259, HG03649, HG00739, NA20904, NA20892, HG02570, NA12760, NA20787, HG00653, NA18991, HG01768, HG03900, HG01498, HG03919, HG01615, HG00956, NA11840, NA19113, NA18555, HG03006, HG00141, HG00410, NA20534, HG01811, NA19652, NA20801, HG03809, NA18950, NA18591, HG03565, HG03642, HG02367, NA19713, HG02107, NA18873, NA19121, NA19011, NA18488, NA20763, NA12890, HG04153, HG03303, HG00978
Known GenesC3AR1, FOXJ2, SLC2A14, SLC2A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628445
Frequency
Sample Size2504
Observed Gain67
Observed Loss0
Observed Complex0
Frequencyn/a


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