A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634860



Internal ID7021660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70350063..70354034hg38UCSC Ensembl
Innerchr14:70350122..70353975hg38UCSC Ensembl
Outerchr14:70350004..70354093hg38UCSC Ensembl
chr14:70816780..70820751hg19UCSC Ensembl
Innerchr14:70816839..70820692hg19UCSC Ensembl
Outerchr14:70816721..70820810hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg383972
hg193972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15052683
SamplesNA21133
Known GenesCOX16, SYNJ2BP-COX16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634860
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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