A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1228e201



Internal ID20126115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:141335179..141335497hg38UCSC Ensembl
chr8:142345278..142345596hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2737777, esv2737775
SamplesSSM083, SSM071, SSM027, SSM046, SSM087, SSM039, SSM088, SSM023, SSM090, SSM026, SSM089, SSM032, SSM031, SSM044, SSM086, SSM072, SSM098
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)dgv1228e201
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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