A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5547687



Internal ID8525090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67242902..67251506hg38UCSC Ensembl
Outerchr14:67242865..67251556hg38UCSC Ensembl
Innerchr14:67709619..67718223hg19UCSC Ensembl
Outerchr14:67709582..67718273hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg388692
hg198692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663835
Supporting Variants
SamplesNA18613
Known GenesMPP5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5547687
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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