A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1199e201



Internal ID20126086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6933373..6940684hg38UCSC Ensembl
chr8:6790895..6798206hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387312
hg197312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2736548, esv2736546, esv2736550
SamplesSSM036, SSM071, SSM027, SSM039, SSM009, SSM073, SSM093, SSM074, SSM021, SSM047, SSM018, SSM026, SSM089, SSM017, SSM031, SSM014, SSM086, SSM085, SSM040, SSM072, SSM078, SSM055, SSM070, SSM043, SSM098, SSM056, SSM063
Known GenesDEFA4
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)dgv1199e201
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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