A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16031444



Internal ID6033260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:28191607..28400218hg38UCSC Ensembl
chr19:28682514..28891125hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38208612
hg19208612
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644097
Supporting Variants
SamplesHG02881
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16031444
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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