A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714367



Internal ID10298003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46393758..46396305hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg192548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv360e201
Supporting Variantsessv6674011, essv6975694, essv6806774, essv6824167, essv6678360, essv6820310, essv6703002, essv6882718, essv6696127, essv6885425, essv6945566, essv6674012
SamplesSSM079, SSM039, SSM074, SSM023, SSM094, SSM032, SSM031, SSM078, SSM037, SSM095, SSM004
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)esv2714367
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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