A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv678e201



Internal ID20125565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63356895..63357500hg38UCSC Ensembl
chr20:61988247..61988852hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2722911, esv2722909
SamplesSSM010, SSM065, SSM027, SSM086, SSM036, SSM091, SSM033, SSM031, SSM024, SSM045, SSM094, SSM077, SSM066, SSM028, SSM029, SSM069, SSM021, SSM087, SSM023, SSM068, SSM044
Known GenesCHRNA4
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)dgv678e201
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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