A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14985707



Internal ID6000033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:41266971..41311687hg38UCSC Ensembl
Innerchr14:41266971..41311687hg38UCSC Ensembl
Outerchr14:41266471..41312187hg38UCSC Ensembl
chr14:41736174..41780890hg19UCSC Ensembl
Innerchr14:41736174..41780890hg19UCSC Ensembl
Outerchr14:41735674..41781390hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3844717
hg1944717
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634200
Supporting Variants
SamplesNA19399
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14985707
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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