A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678445



Internal ID9597864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:88762017..88772737hg38UCSC Ensembl
Outerchr14:88761860..88772890hg38UCSC Ensembl
Innerchr14:89228361..89239081hg19UCSC Ensembl
Outerchr14:89228204..89239234hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3811031
hg1911031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6575661
SamplesNA12843
Known GenesEML5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678445
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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