A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714217



Internal ID10297853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32517120..32517600hg38UCSC Ensembl
Outerchr16:32528441..32528921hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38481
hg19481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6901788
SamplesSSM012
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)esv2714217
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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