A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15040289



Internal ID5042105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63488478..63497832hg38UCSC Ensembl
Innerchr14:63488978..63497332hg38UCSC Ensembl
Outerchr14:63487478..63498832hg38UCSC Ensembl
chr14:63955196..63964550hg19UCSC Ensembl
Innerchr14:63955696..63964050hg19UCSC Ensembl
Outerchr14:63954196..63965550hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg389355
hg199355
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634729
Supporting Variants
SamplesHG00231
Known GenesPPP2R5E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15040289
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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