A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6867760



Internal ID9917779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8564126..8564213hg38UCSC Ensembl
Outerchr16:8614128..8614215hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2713933, esv2713935, esv2713934
Supporting Variants
SamplesSSM089
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)essv6867760
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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