A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750078



Internal ID9811628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89160000..89160666hg38UCSC Ensembl
Outerchr16:89226408..89227074hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38667
hg19667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715119
Supporting Variants
SamplesSSM056
Known GenesLINC00304
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)essv6750078
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer