A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15040284



Internal ID5042100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63457266..63464804hg38UCSC Ensembl
Innerchr14:63457266..63464804hg38UCSC Ensembl
Outerchr14:63457208..63464941hg38UCSC Ensembl
chr14:63923984..63931522hg19UCSC Ensembl
Innerchr14:63923984..63931522hg19UCSC Ensembl
Outerchr14:63923926..63931659hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg387539
hg197539
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634725
Supporting Variants
SamplesNA18990
Known GenesPPP2R5E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15040284
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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