A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6960110



Internal ID9715755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:17143808..17143860hg38UCSC Ensembl
Outerchr16:17237665..17237717hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714037, esv2714015, esv2714036
Supporting Variants
SamplesSSM026
Known GenesXYLT1
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)essv6960110
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