A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15004703



Internal ID2568781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48767731..48827861hg38UCSC Ensembl
Innerchr14:48767731..48827861hg38UCSC Ensembl
Outerchr14:48767231..48828361hg38UCSC Ensembl
chr14:49236934..49297064hg19UCSC Ensembl
Innerchr14:49236934..49297064hg19UCSC Ensembl
Outerchr14:49236434..49297564hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3860131
hg1960131
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634446
Supporting Variants
SamplesHG02278
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15004703
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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