A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3332357



Internal ID15179344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:95257562..95259560hg38UCSC Ensembl
Innerchr14:95258560..95258562hg38UCSC Ensembl
Outerchr14:95256562..95260560hg38UCSC Ensembl
chr14:95723899..95725897hg19UCSC Ensembl
Innerchr14:95724897..95724899hg19UCSC Ensembl
Outerchr14:95722899..95726897hg19UCSC Ensembl
chr14:94793652..94795650hg18UCSC Ensembl
Innerchr14:94794652..94794650hg18UCSC Ensembl
Outerchr14:94792652..94796650hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1325e59
Supporting Variantsessv8689499
SamplesNA19239
Known GenesCLMN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3332357
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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