A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15014128



Internal ID1933861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53262435..53276404hg38UCSC Ensembl
chr14:53729153..53743122hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3813970
hg1913970
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634535
Supporting Variants
SamplesHG01801
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15014128
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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