A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641752



Internal ID6681834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9693936..9733698hg38UCSC Ensembl
chr18:9693933..9733695hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3839763
hg1939763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15802937
SamplesHG04134
Known GenesRAB31
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641752
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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