A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv279e201



Internal ID22759637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104807361..104808381hg38UCSC Ensembl
chr14:105273698..105274718hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381021
hg191021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2749235, esv2749239, esv2749242, esv2749230, esv2749232, esv2749237
SamplesSSM100, SSM027, SSM024, SSM045, SSM046, SSM011, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM074, SSM088, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM047, SSM061, SSM026, SSM089, SSM017, SSM035, SSM003, SSM031, SSM067, SSM014, SSM086, SSM066, SSM006, SSM085, SSM081, SSM020, SSM007, SSM015, SSM078, SSM053, SSM037, SSM076, SSM022, SSM091, SSM095, SSM043, SSM098, SSM049, SSM063, SSM012
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv279e201
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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