A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643402



Internal ID6683478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1510538..1526937hg38UCSC Ensembl
chr19:1510537..1526936hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3816400
hg1916400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15968128
SamplesHG01859
Known GenesADAMTSL5, PLK5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643402
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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