A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658279



Internal ID9924384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69884560..69889511hg38UCSC Ensembl
Outerchr14:69884403..69889664hg38UCSC Ensembl
Innerchr14:70351277..70356228hg19UCSC Ensembl
Outerchr14:70351120..70356381hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg385262
hg195262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6233061
SamplesNA18856
Known GenesSMOC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658279
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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