A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv313e199



Internal ID18982367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111538484..111542293hg38UCSC Ensembl
chr12:111976288..111980097hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg383810
hg193810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2674930, esv2675751
SamplesHG00313, NA12750, HG00182, NA20526, HG01072, NA20785, NA12342, HG00328, HG00186, NA12347, NA20535, NA20508, NA06989, NA20816, HG00375, HG01491, NA20786, HG01350, NA12058, HG00111, HG00334, NA07051, NA19651, HG00335, HG01101, NA11893, HG00177, NA12341, NA12287, NA20521, HG00554, HG01133, NA20761, NA20819, NA20811, HG00231, NA20807, NA12761, HG00338, HG00150, NA12400, HG00254, NA20773, NA20769, HG00159, NA12716, NA20760, NA20512, HG00732, NA12778, NA12348, HG00185, NA20795, NA20540, HG00239, HG00273, HG00282, HG01069, HG00116, NA20797, NA19707, HG00246, NA11832, NA12890, NA20581, NA20534, NA19723, NA12889, NA20509, NA12399, NA20812, NA12717, HG00137, HG01102, HG00143, NA20772
Known GenesATXN2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv313e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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