A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714858



Internal ID10298494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85882467..85883893hg38UCSC Ensembl
Outerchr16:85916073..85917499hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381427
hg191427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6879907, essv6665632, essv6846405, essv6674133, essv6867895, essv6858107, essv6766101, essv6936808, essv6891767, essv6758606, essv6966746
SamplesSSM059, SSM027, SSM087, SSM097, SSM093, SSM021, SSM029, SSM089, SSM031, SSM085, SSM063
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)esv2714858
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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