A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714035



Internal ID9948319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:17132254..17132699hg38UCSC Ensembl
Outerchr16:17226111..17226556hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6788259, essv6678301, essv6691996, essv6800730, essv6717282, essv6913070, essv6842939
SamplesSSM036, SSM084, SSM069, SSM032, SSM072, SSM015, SSM043
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)esv2714035
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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