A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727201



Internal ID10310837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14186708..14187397hg38UCSC Ensembl
Outerchr4:14188332..14189021hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6790732, essv6962774, essv6722726, essv6822010, essv6956046, essv6860099, essv6755354, essv6934112, essv6739466, essv6748327, essv6742687
SamplesSSM008, SSM027, SSM045, SSM009, SSM088, SSM021, SSM026, SSM053, SSM010, SSM052, SSM056
Known Genes
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)esv2727201
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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