A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634805



Internal ID6674919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67568391..67573598hg38UCSC Ensembl
Innerchr14:67568391..67573598hg38UCSC Ensembl
Outerchr14:67568241..67573769hg38UCSC Ensembl
chr14:68035108..68040315hg19UCSC Ensembl
Innerchr14:68035108..68040315hg19UCSC Ensembl
Outerchr14:68034958..68040486hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg385208
hg195208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15046235
SamplesHG02768
Known GenesPLEKHH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634805
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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