A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5998215



Internal ID8975618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80186391..80186486hg38UCSC Ensembl
Outerchr18:80186343..80186549hg38UCSC Ensembl
Innerchr18:77944274..77944369hg19UCSC Ensembl
Outerchr18:77944226..77944432hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2663498
Supporting Variants
SamplesNA19786
Known GenesPARD6G
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5998215
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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