A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643828



Internal ID6683897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17969679..18030964hg38UCSC Ensembl
chr19:18080488..18141773hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3861286
hg1961286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16003842
SamplesHG03066
Known GenesARRDC2, KCNN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643828
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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