A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966692



Internal ID9726248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:49506499..49506597hg38UCSC Ensembl
Outerchr16:49540410..49540508hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714453, esv2714452
Supporting Variants
SamplesSSM027
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)essv6966692
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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