A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5472388



Internal ID8449791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104884179..104884985hg38UCSC Ensembl
Outerchr14:104883808..104885355hg38UCSC Ensembl
Innerchr14:105350516..105351322hg19UCSC Ensembl
Outerchr14:105350145..105351692hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381548
hg191548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673602
Supporting Variants
SamplesNA19921
Known GenesCEP170B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5472388
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