A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591535



Internal ID6978863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85714152..85717820hg38UCSC Ensembl
Innerchr2:85714153..85717820hg38UCSC Ensembl
Outerchr2:85714152..85717821hg38UCSC Ensembl
chr2:85941275..85944943hg19UCSC Ensembl
Innerchr2:85941276..85944943hg19UCSC Ensembl
Outerchr2:85941275..85944944hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg383669
hg193669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10568894, essv10568914, essv10568885, essv10568882, essv10568915, essv10568908, essv10568911, essv10568883, essv10568889, essv10568901, essv10568902, essv10568920, essv10568912, essv10568898, essv10568886, essv10568895, essv10568899, essv10568903, essv10568884, essv10568918, essv10568896, essv10568892, essv10568887, essv10568922, essv10568905, essv10568916, essv10568907, essv10568906, essv10568921, essv10568910, essv10568904, essv10568881, essv10568913, essv10568900, essv10568917, essv10568923, essv10568893, essv10568891, essv10568888, essv10568919, essv10568897, essv10568890, essv10568909
SamplesHG02122, NA18979, HG02688, NA18602, HG03782, HG01848, HG02603, HG03947, NA19087, HG04185, HG04075, NA19082, HG00428, HG03711, HG01810, HG02728, NA21116, HG02789, HG03967, HG03742, HG00651, HG04054, HG02783, HG03006, HG04159, NA21142, HG00445, HG03598, HG00476, HG03778, HG03809, HG03850, HG03702, HG04003, NA20887, HG04141, NA21102, HG04014, HG02182, HG02778, NA18624, HG04153, HG03985
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591535
Frequency
Sample Size2504
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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