A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv255e201



Internal ID22759613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113541422..113542412hg38UCSC Ensembl
chr13:114195737..114196727hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38991
hg19991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2748317, esv2748320
SamplesSSM083, SSM071, SSM027, SSM024, SSM046, SSM011, SSM079, SSM087, SSM097, SSM039, SSM073, SSM074, SSM042, SSM088, SSM023, SSM028, SSM084, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM094, SSM031, SSM067, SSM033, SSM085, SSM040, SSM072, SSM082, SSM020, SSM078, SSM005, SSM076, SSM091, SSM095, SSM043, SSM098, SSM012
Known GenesTMCO3
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)dgv255e201
Frequency
Sample Size96
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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