A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv20e201



Internal ID22759378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43904011..43906302hg38UCSC Ensembl
chr1:44369683..44371974hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382292
hg192292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2747608, esv2747619
SamplesSSM036, SSM008, SSM071, SSM027, SSM075, SSM045, SSM046, SSM079, SSM097, SSM073, SSM074, SSM042, SSM028, SSM084, SSM069, SSM061, SSM029, SSM031, SSM067, SSM014, SSM068, SSM081, SSM040, SSM077, SSM022, SSM070, SSM034, SSM098, SSM063
Known GenesST3GAL3
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)dgv20e201
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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