A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661506



Internal ID9580925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104473838..104476344hg38UCSC Ensembl
Outerchr12:104473467..104476714hg38UCSC Ensembl
Innerchr12:104867616..104870122hg19UCSC Ensembl
Outerchr12:104867245..104870492hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383248
hg193248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6519520, essv6033055, essv5947987, essv5423926, essv5844938, essv6001891, essv6571624, essv5777059, essv5796316, essv6053644, essv6253621, essv6092340, essv5729971, essv5722952, essv6228667, essv5617398, essv6234376, essv5996835, essv6594008, essv6512771, essv6145118, essv5542105, essv5826249, essv5511835, essv6256161, essv5963528, essv6439538, essv5707153, essv6120610, essv5817769, essv6509621, essv6032382, essv5464685, essv6134423, essv5435427, essv5454510, essv6040286, essv6242921, essv5594032, essv6000887
SamplesHG01072, HG01052, HG01075, HG01055, HG00731, HG00736, HG01098, HG01079, HG01197, HG01051, HG01082, HG01174, HG00553, HG01182, HG01167, HG01188, HG01204, HG01101, HG01168, HG00737, HG01171, HG01107, HG01048, HG01183, HG01047, HG01187, HG01191, HG01066, HG01170, HG01069, HG01176, HG01080, HG00740, HG01070, HG01060, HG01190, HG01095, HG01108, HG01067, HG01198
Known GenesCHST11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661506
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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