A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676946



Internal ID9596365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80171798..80175249hg38UCSC Ensembl
Outerchr18:80171641..80175402hg38UCSC Ensembl
Innerchr18:77929681..77933132hg19UCSC Ensembl
Outerchr18:77929524..77933285hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg383762
hg193762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5572116
SamplesHG00566
Known GenesPARD6G, PARD6G-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676946
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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