A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8965085



Internal ID13782474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:37856279..37856352hg38UCSC Ensembl
Innerchr14:37856304..37856327hg38UCSC Ensembl
Outerchr14:37856254..37856377hg38UCSC Ensembl
chr14:38325484..38325557hg19UCSC Ensembl
Innerchr14:38325509..38325532hg19UCSC Ensembl
Outerchr14:38325459..38325582hg19UCSC Ensembl
chr14:37395235..37395308hg18UCSC Ensembl
Innerchr14:37395260..37395283hg18UCSC Ensembl
Outerchr14:37395210..37395333hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38783
hg19783
hg18783
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3406719
Supporting Variants
SamplesNA18501
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8965085
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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