A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv329e201



Internal ID20125216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8564126..8564929hg38UCSC Ensembl
chr16:8614128..8614931hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38804
hg19804
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2713937, esv2713935
SamplesSSM036, SSM083, SSM071, SSM075, SSM045, SSM011, SSM079, SSM038, SSM042, SSM088, SSM069, SSM096, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM044, SSM014, SSM086, SSM068, SSM081, SSM040, SSM072, SSM016, SSM080, SSM095
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)dgv329e201
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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