A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3374699



Internal ID15221674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:94937662..94939460hg38UCSC Ensembl
Innerchr14:94938460..94938662hg38UCSC Ensembl
Outerchr14:94936662..94940460hg38UCSC Ensembl
chr14:95403999..95405797hg19UCSC Ensembl
Innerchr14:95404797..95404999hg19UCSC Ensembl
Outerchr14:95402999..95406797hg19UCSC Ensembl
chr14:94473752..94475550hg18UCSC Ensembl
Innerchr14:94474752..94474550hg18UCSC Ensembl
Outerchr14:94472752..94476550hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1324e59
Supporting Variantsessv8689497
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3374699
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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