A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6706611



Internal ID9772744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:570883..571406hg38UCSC Ensembl
Outerchr16:620883..621406hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750208
Supporting Variants
SamplesSSM040
Known GenesPIGQ
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)essv6706611
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