A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052466



Internal ID6766024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69893972..69900059hg38UCSC Ensembl
Innerchr14:69894007..69900024hg38UCSC Ensembl
Outerchr14:69893937..69900094hg38UCSC Ensembl
chr14:70360689..70366776hg19UCSC Ensembl
Innerchr14:70360724..70366741hg19UCSC Ensembl
Outerchr14:70360654..70366811hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg386088
hg196088
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634847
Supporting Variants
SamplesNA20872
Known GenesSMOC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052466
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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