A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628525



Internal ID7015349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10093357..10094624hg38UCSC Ensembl
Innerchr12:10093357..10094624hg38UCSC Ensembl
Outerchr12:10093098..10094926hg38UCSC Ensembl
chr12:10245956..10247223hg19UCSC Ensembl
Innerchr12:10245956..10247223hg19UCSC Ensembl
Outerchr12:10245697..10247525hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14373911, essv14373921, essv14373927, essv14373914, essv14373904, essv14373922, essv14373913, essv14373901, essv14373905, essv14373929, essv14373923, essv14373924, essv14373907, essv14373931, essv14373938, essv14373909, essv14373935, essv14373926, essv14373920, essv14373937, essv14373932, essv14373928, essv14373898, essv14373933, essv14373906, essv14373910, essv14373900, essv14373936, essv14373902, essv14373934, essv14373917, essv14373899, essv14373930, essv14373912, essv14373916, essv14373903, essv14373918, essv14373919, essv14373925, essv14373897, essv14373915, essv14373908
SamplesHG03800, NA20891, HG04158, NA21100, HG03941, HG02600, NA19057, HG03018, NA20863, HG03944, HG03009, NA21103, HG03986, HG04020, HG03814, NA21105, NA21122, HG02697, NA21119, HG02775, HG03771, NA20875, HG03805, NA20876, HG02789, NA20866, HG04054, HG02787, HG04173, NA21142, NA21087, NA21144, HG03850, NA21095, HG04003, HG03019, HG04141, HG04140, NA20849, NA21133, HG04209, HG02774
Known GenesCLEC1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628525
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer