A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714461



Internal ID10298097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:50579483..50579727hg38UCSC Ensembl
Outerchr16:50613394..50613638hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682092, essv6784172
SamplesSSM033, SSM068
Known GenesNKD1
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)esv2714461
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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