A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3551323



Internal ID18752399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31338989..31339253hg38UCSC Ensembl
Outerchr14:31338973..31339306hg38UCSC Ensembl
Innerchr14:31808195..31808459hg19UCSC Ensembl
Outerchr14:31808179..31808512hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9750070
Samples
Known GenesHEATR5A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3551323
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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