A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714288



Internal ID9995434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:55728149..55767444hg38UCSC Ensembl
Outerchr16:55762061..55801356hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3839296
hg1939296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714505
Supporting Variants
SamplesSSM006
Known GenesCES1P1, CES1P2
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)essv6714288
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