A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052686



Internal ID5275124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70429461..70433353hg38UCSC Ensembl
Innerchr14:70429478..70433336hg38UCSC Ensembl
Outerchr14:70429444..70433370hg38UCSC Ensembl
chr14:70896178..70900070hg19UCSC Ensembl
Innerchr14:70896195..70900053hg19UCSC Ensembl
Outerchr14:70896161..70900087hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg383893
hg193893
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634862
Supporting Variants
SamplesNA18643
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052686
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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