A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052465



Internal ID5304661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69884476..69889582hg38UCSC Ensembl
Innerchr14:69884476..69889582hg38UCSC Ensembl
Outerchr14:69884445..69889664hg38UCSC Ensembl
chr14:70351193..70356299hg19UCSC Ensembl
Innerchr14:70351193..70356299hg19UCSC Ensembl
Outerchr14:70351162..70356381hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg385107
hg195107
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634846
Supporting Variants
SamplesNA18856
Known GenesSMOC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052465
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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