A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5519330



Internal ID9472886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:29404094..29408355hg38UCSC Ensembl
Outerchr14:29404057..29408405hg38UCSC Ensembl
Innerchr14:29873300..29877561hg19UCSC Ensembl
Outerchr14:29873263..29877611hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg384349
hg194349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2661018
Supporting Variants
SamplesNA18943
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5519330
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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