A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15040395



Internal ID3400594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63570846..63581945hg38UCSC Ensembl
chr14:64037564..64048663hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3811100
hg1911100
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634732
Supporting Variants
SamplesHG03048
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15040395
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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