A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1209e201



Internal ID22760567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61033288..61033515hg38UCSC Ensembl
chr8:61945847..61946074hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2737070, esv2737072
SamplesSSM036, SSM083, SSM027, SSM024, SSM011, SSM087, SSM097, SSM013, SSM093, SSM088, SSM002, SSM057, SSM023, SSM028, SSM029, SSM089, SSM017, SSM032, SSM031, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM020, SSM078, SSM077, SSM076, SSM022, SSM091, SSM025, SSM034, SSM043
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)dgv1209e201
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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