A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv222e201



Internal ID20125109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45377632..45382050hg38UCSC Ensembl
chr13:45951767..45956185hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg384419
hg194419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2747342, esv2747344
SamplesSSM100, SSM083, SSM071, SSM045, SSM046, SSM079, SSM065, SSM039, SSM013, SSM073, SSM074, SSM042, SSM028, SSM084, SSM047, SSM096, SSM017, SSM067, SSM044, SSM033, SSM068, SSM081, SSM040, SSM072, SSM080, SSM070, SSM095, SSM034, SSM043, SSM098
Known GenesTPT1-AS1
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)dgv222e201
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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