A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644659



Internal ID6684725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50869934..50881389hg38UCSC Ensembl
chr19:51373190..51384645hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3811456
hg1911456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16078742
SamplesHG04070
Known GenesKLK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644659
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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