A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828183



Internal ID9882161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8564209..8564922hg38UCSC Ensembl
Outerchr16:8614211..8614924hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2713937, esv2713935
Supporting Variants
SamplesSSM080
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)essv6828183
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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