A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15000531



Internal ID6206684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:44543301..44606545hg38UCSC Ensembl
chr14:45012504..45075748hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3863245
hg1963245
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634331
Supporting Variants
SamplesNA19734
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15000531
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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