A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1210e201



Internal ID22760568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61052343..61052787hg38UCSC Ensembl
chr8:61964902..61965346hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2737074, esv2737076
SamplesSSM046, SSM064, SSM087, SSM039, SSM041, SSM031, SSM086, SSM020, SSM080
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)dgv1210e201
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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