A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6867855



Internal ID9917864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:49506498..49506600hg38UCSC Ensembl
Outerchr16:49540409..49540511hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714453, esv2714452
Supporting Variants
SamplesSSM089
Known GenesZNF423
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)essv6867855
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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