A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052683



Internal ID6954079
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634860
Supporting Variants
SamplesNA21133
Known GenesCOX16, SYNJ2BP-COX16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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