A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714661



Internal ID10298297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:69196190..69211384hg38UCSC Ensembl
Outerchr16:69230093..69245287hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3815195
hg1915195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863075
SamplesSSM088
Known GenesSNTB2
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)esv2714661
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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