A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1198e201



Internal ID20126085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6933347..6933678hg38UCSC Ensembl
chr8:6790869..6791200hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2736547, esv2736545, esv2736552, esv2736549
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM013, SSM042, SSM088, SSM041, SSM023, SSM084, SSM090, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM085, SSM068, SSM081, SSM082, SSM020, SSM015, SSM078, SSM005, SSM080, SSM037, SSM077, SSM010, SSM091, SSM070, SSM034, SSM099
Known Genes
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)dgv1198e201
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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