A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716969



Internal ID9951258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37441654..37442287hg38UCSC Ensembl
Outerchr18:35021617..35022250hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38634
hg19634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666028, essv6971670, essv6732952, essv6696415, essv6828485, essv6960620, essv6779132, essv6678615
SamplesSSM032, SSM028, SSM029, SSM047, SSM037, SSM026, SSM008, SSM080
Known GenesCELF4
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)esv2716969
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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