A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643338



Internal ID6683418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80225317..80242203hg38UCSC Ensembl
chr18:77983200..78000086hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3816887
hg1916887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv649e214
Supporting Variantsessv15961903, essv15961901, essv15961904, essv15961902
SamplesNA06984, HG01048, HG01047, HG01396
Known GenesPARD6G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643338
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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