A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15961905



Internal ID5963721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80225373..80241363hg38UCSC Ensembl
Innerchr18:80225375..80241361hg38UCSC Ensembl
Outerchr18:80225371..80241365hg38UCSC Ensembl
chr18:77983256..77999246hg19UCSC Ensembl
Innerchr18:77983258..77999244hg19UCSC Ensembl
Outerchr18:77983254..77999248hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3815991
hg1915991
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643339
Supporting Variants
SamplesHG01047
Known GenesPARD6G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15961905
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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