A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6913060



Internal ID9674709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8562579..8562973hg38UCSC Ensembl
Outerchr16:8612581..8612975hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2713928, esv2713927
Supporting Variants
SamplesSSM015
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)essv6913060
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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