A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643331



Internal ID6683411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80099479..80182196hg38UCSC Ensembl
chr18:77857360..77940079hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3882718
hg1982720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15961821
SamplesNA18536
Known GenesADNP2, PARD6G, PARD6G-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643331
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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