A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643332



Internal ID6683412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80136109..80224214hg38UCSC Ensembl
chr18:77893992..77982097hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3888106
hg1988106
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15961822
SamplesNA06984
Known GenesADNP2, PARD6G, PARD6G-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643332
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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