A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv330e201



Internal ID20125217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10764767..10765031hg38UCSC Ensembl
chr16:10858624..10858888hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2713970, esv2713972, esv2713975
SamplesSSM036, SSM071, SSM027, SSM024, SSM045, SSM079, SSM065, SSM039, SSM088, SSM041, SSM023, SSM028, SSM047, SSM026, SSM089, SSM019, SSM035, SSM040, SSM072, SSM078, SSM080, SSM022, SSM055, SSM025, SSM034, SSM052
Known GenesNUBP1
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)dgv330e201
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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