A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748722



Internal ID10329692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:53181803..53181958hg38UCSC Ensembl
Outerchr14:53648521..53648676hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868231
SamplesSSM011
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)esv2748722
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