A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14951578



Internal ID6935616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28498180..28499485hg38UCSC Ensembl
Innerchr14:28498198..28499468hg38UCSC Ensembl
Outerchr14:28498163..28499503hg38UCSC Ensembl
chr14:28967386..28968691hg19UCSC Ensembl
Innerchr14:28967404..28968674hg19UCSC Ensembl
Outerchr14:28967369..28968709hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381306
hg191306
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633914
Supporting Variants
SamplesNA21124
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14951578
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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