A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713935



Internal ID9948219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8564126..8564924hg38UCSC Ensembl
Outerchr16:8614128..8614926hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv329e201
Supporting Variantsessv6888358, essv6691987, essv6688663, essv6869976, essv6928316, essv6828183, essv6809749, essv6721148, essv6713404, essv6699068, essv6867758, essv6916550, essv6916552, essv6867760, essv6831776, essv6706626, essv6824095, essv6784051, essv6867759, essv6839096, essv6796504, essv6885383, essv6724938, essv6862973, essv6909341, essv6788252, essv6882680
SamplesSSM036, SSM083, SSM071, SSM075, SSM045, SSM011, SSM079, SSM038, SSM042, SSM088, SSM069, SSM096, SSM089, SSM019, SSM035, SSM094, SSM044, SSM014, SSM068, SSM081, SSM040, 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)esv2713935
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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