A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678187



Internal ID9597606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80225370..80241359hg38UCSC Ensembl
chr18:77983253..77999242hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3815990
hg1915990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6551769, essv5608275, essv6495625
SamplesHG01052, HG01048, HG01047
Known GenesPARD6G
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678187
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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