A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675833



Internal ID9941938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55145348..55149654hg38UCSC Ensembl
Outerchr19:55144977..55150024hg38UCSC Ensembl
Innerchr19:55656716..55661022hg19UCSC Ensembl
Outerchr19:55656345..55661392hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg385048
hg195048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5947393, essv5509096, essv5622918, essv5517127, essv5724153, essv6113330, essv6417381, essv6389783, essv6460201, essv5621656, essv6436904, essv5634373, essv5617380, essv5705822, essv5989151, essv5690809, essv5413357, essv6177692, essv5471981, essv5983805, essv5784367, essv5499412, essv5652772, essv6185575, essv5765904, essv5613050, essv6270091, essv6146837, essv5649401, essv5580035, essv5799634, essv5427505, essv6283269, essv6519419, essv6534873, essv5873444, essv6258087, essv5705170, essv6387515, essv5410438, essv5992714, essv6277221, essv6124465, essv5946330, essv5920104, essv5523421, essv5764720, essv6413066
SamplesHG00231, HG00249, HG00257, HG00233, HG00244, HG00115, HG00261, HG00138, HG00251, HG00247, HG00243, HG00158, HG00139, HG00120, HG00106, HG00236, HG00262, HG00232, HG00160, HG00118, HG00159, HG00253, HG00137, HG00133, HG00154, HG00263, HG00117, HG00157, HG00140, HG01334, HG00146, HG00246, HG00126, HG00258, HG00124, HG00155, HG00254, HG00119, HG00136, HG00237, HG00116, HG00256, HG00125, HG00111, HG00259, HG00123, HG00131, HG00252
Known GenesTNNT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675833
Frequency
Sample Size1151
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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