A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717199



Internal ID3267695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:63145162..63145587hg38UCSC Ensembl
Outerchr18:60812395..60812820hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858443, essv6921088, essv6902051
SamplesSSM012, SSM017, SSM087
Known GenesBCL2
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)esv2717199
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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