A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661105



Internal ID9580524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80166195..80168831hg38UCSC Ensembl
chr18:77924078..77926714hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg382637
hg192637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6232115, essv6040063
SamplesNA19712, NA18871
Known GenesPARD6G, PARD6G-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661105
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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