A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15064106



Internal ID6029841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75317916..75319276hg38UCSC Ensembl
Innerchr14:75317936..75319257hg38UCSC Ensembl
Outerchr14:75317897..75319296hg38UCSC Ensembl
chr14:75784619..75785979hg19UCSC Ensembl
Innerchr14:75784639..75785960hg19UCSC Ensembl
Outerchr14:75784600..75785999hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381361
hg191361
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634962
Supporting Variants
SamplesNA19437
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15064106
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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