A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634451



Internal ID7021254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48897062..48920422hg38UCSC Ensembl
Innerchr14:48897082..48920403hg38UCSC Ensembl
Outerchr14:48897043..48920442hg38UCSC Ensembl
chr14:49366265..49389625hg19UCSC Ensembl
Innerchr14:49366285..49389606hg19UCSC Ensembl
Outerchr14:49366246..49389645hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3823361
hg1923361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15004788
SamplesHG02943
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634451
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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